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Sample records for large swedish family

  1. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

    PubMed

    Grigelioniene, Giedre; Geiberger, Stefan; Horemuzova, Eva; Moström, Eva; Jäntti, Nina; Neumeyer, Lo; Åström, Eva; Nordenskjöld, Magnus; Nordgren, Ann; Mäkitie, Outi

    2014-07-01

    Autosomal dominant brachyolmia (Type 3, OMIM #113500) belongs to a group of skeletal dysplasias caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) gene, encoding a Ca++-permeable, non-selective cation channel. The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. The phenotypic variability and long-term natural course remain inadequately characterized. The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals. The mutation has previously been detected in another family with autosomal dominant brachyolmia [Rock et al., 2008]. Review of hospital records and patient assessments indicated that clinical symptoms of brachyolmia became evident by school age with chronic pain in the spine and hips; radiographic changes were evident earlier. Growth was not affected during early childhood but deteriorated with age in some patients due to increasing spinal involvement. Affected individuals had a wide range of subjective symptoms with chronic pain in the extremities and the spine, and paresthesias. Our findings indicate that autosomal dominant brachyolmia may be associated with significant long-term morbidity, as seen in this family. PMID:24677493

  2. The Swedish Family: Problems, Programs and Prospects.

    ERIC Educational Resources Information Center

    Lindblom, Paul

    1986-01-01

    To clarify issues in the controversy in Sweden concerning the means and ends of family policy, this article analyzes the economic plight of Swedish families with children, elucidates the views of parents and politicians, discusses the changing role and status of women, and considers prospects for the future. Also discussed are work equality and…

  3. Homework as Serious Family Business: Power and Subjectivity in Negotiations about School Assignments in Swedish Families

    ERIC Educational Resources Information Center

    Forsberg, Lucas

    2007-01-01

    Most previous research on parental involvement in children's homework has focused on the pedagogical advantages or disadvantages of school assignments while neglecting the practice in its social context, family life. By studying parent-child homework negotiations in Swedish families, this paper examines how family members position themselves and…

  4. Child Custody Rules in the Context of Swedish Family Law. Social Change in Sweden, No. 31.

    ERIC Educational Resources Information Center

    Ekdahl, Bertil

    In recent years, existing family legislation in Sweden has undergone a review process resulting in extensive revisions. The decisive factor behind these revisions has been change in Swedish society during the 20th century, including urbanization, frequent changes in residence, fewer children per family, the labor force participation of most women…

  5. Translation and Testing of the Swedish Version of Iceland-Family Perceived Support Questionnaire With Parents of Children With Congenital Heart Defects.

    PubMed

    Bruce, Elisabeth; Dorell, Åsa; Lindh, Viveca; Erlingsson, Christen; Lindkvist, Marie; Sundin, Karin

    2016-08-01

    There is a need for a suitable instrument for the Swedish context that could measure family members' perceptions of cognitive and emotional support received from nurses. The purpose of this study was to translate and test the psychometric properties of the Swedish version of the Iceland-Family Perceived Support Questionnaire (ICE-FPSQ) and, further, to report perceptions of support from nurses by family members of children with congenital heart defects (CHDs). A sample of 97 parents of children with CHD, living in Sweden, completed the Swedish translation of ICE-FPSQ. The Swedish version of ICE-FPSQ was found to be reliable and valid in this context. Parents scored perceived family support provided by nurses working in pediatric outpatient clinics as low, which suggests that nurses in these outpatient contexts in Sweden offered family nursing only sparingly. PMID:27402026

  6. Asteroid family classification from very large catalogues

    NASA Astrophysics Data System (ADS)

    Lemaitre, Anne

    2005-02-01

    The paper presents a review of the recent contributions and open questions concerning the families of asteroids. Due to the availability of very large catalogues (synthetic and analytical proper elements of the asteroids and large observational surveys of their spectra) and to the introduction of non gravitational forces in their determination, the concept of static family has disappeared, to be replaced by this of dynamical families. The proper elements are not constant anymore but are ageing on very long timescales. The size distributions of the populations of asteroids, in and out the families, their ages, the ejection velocities of the fragments after an impact, have been reconsidered by several teams of research, with this new approach. Parallel numerical simulations of collisions and fragmentations of bodies have showed that most of the asteroids are likely rubble piles or agglomerates than monolithic blocks. The methods of classification have been refined and combine, in their newest versions, the dynamics and the observations, working now on 5 dimensional space instead of 3. A series of sub families of the large well-known families have been recently identified, using catalogues with more than 100 000 asteroids (the cluster Karin for example).

  7. Allelic association but only weak evidence for linkage to the apolipoprotein E locus in late-onset Swedish Alzheimer families

    SciTech Connect

    Liu, L.; Forsell, C.; Lilius, L.

    1996-05-31

    An association between the {epsilon}4 allele of the apolipoprotein E gene (APOE) and late-onset Alzheimer`s disease (AD) was recently demonstrated. In order to confirm the association and to gauge the ability of standard genetic linkage methods to identify susceptibility genes, we investigated 15 Swedish late-onset AD families. We found an association of familial AD to the APOE {epsilon}4 allele (P = 0.01) but no indication of linkage to the APOE region using 2-point linkage analysis, and only weak evidence using the affected pedigree-member (APM) method. Our results confirm an APOE {epsilon}4 association with late-onset familial AD and indicate that susceptibility genes can easily be missed when using standard lod score and APM genetic linkage analysis. 19 refs., 1 fig., 4 tabs.

  8. Methods for testing familial aggregation of diseases in population-based samples: application to Hodgkin lymphoma in Swedish registry data.

    PubMed

    Pfeiffer, R M; Goldin, L R; Chatterjee, N; Daugherty, S; Hemminki, K; Pee, D; X, L I; Gail, M H

    2004-09-01

    We use data on lymphoma in families of Hodgkin lymphoma (HL) cases from the Swedish Family Cancer Database (Hemminki et al. 2001) to illustrate survival methods for detecting familial aggregation in first degree relatives of case probands compared to first degree relatives of control probands, from registries that permit sampling of all cases. Because more than one case may occur in a given family, the first degree relatives of case probands are not necessarily independent, and we present procedures that allow for such dependence. A bootstrap procedure also accommodates matching of case and control probands by resampling the matching clusters, defined as the combined set of all first degree relatives of the matched case and control probands. Regarding families as independent sampling units leads to inferences based on "sandwich variance estimators" and accounts for dependencies from having more than one proband in a family, but not for matching. We compare these methods in analysis of familial aggregation of HL and also present simulations to compare survival analyses with analyses of binary outcome data. PMID:15469426

  9. Perinatal and Familial Risk Factors for Acute Lymphoblastic Leukemia in a Swedish National Cohort

    PubMed Central

    Crump, Casey; Sundquist, Jan; Sieh, Weiva; Winkleby, Marilyn A.; Sundquist, Kristina

    2015-01-01

    Background Perinatal factors including high birth weight have been associated with acute lymphoblastic leukemia (ALL) in case-control studies. However, these findings have seldom been examined in large population-based cohort studies, and the specific contributions of gestational age and fetal growth remain unknown. Methods We conducted a national cohort study of 3,569,333 persons without Down syndrome who were born in Sweden in 1973-2008, followed up for ALL incidence through 2010 (maximum age 38 years) to examine perinatal and familial risk factors. Results There were 1,960 ALL cases in 69.7 million person-years of follow-up. After adjusting for potential confounders, risk factors for ALL included high fetal growth (incidence rate ratio [IRR] per additional 1 standard deviation, 1.07; 95% CI, 1.02-1.11, P=0.002; IRR for large vs. appropriate for gestational age, 1.22; 95% CI, 1.06-1.40; P=0.005), first-degree family history of ALL (IRR, 7.41; 95% CI, 4.60-11.95, P<0.001), male sex (IRR, 1.20; 95% CI, 1.10-1.31; P<0.001), and parental country of birth (IRR for both parents born in Sweden vs. other countries, 1.13; 95% CI, 1.00-1.27, P=0.045). These risk factors did not appear to vary by age at ALL diagnosis. Gestational age at birth, season of birth, birth order, multiple birth, parental age, and parental education level were not associated with ALL. Conclusions In this large cohort study, high fetal growth was associated with an increased risk of ALL in childhood through young adulthood, independently of gestational age at birth, suggesting that growth factor pathways may play an important long-term role in the etiology of ALL. PMID:25417823

  10. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa

    PubMed Central

    Abdulridha-Aboud, Wissam; Kjellström, Ulrika; Andréasson, Sten

    2016-01-01

    Purpose To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG. Conclusions These two families demonstrate the extreme inter- and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype. PMID:27212874

  11. Time-for-Money Exchanges between Older and Younger Generations in Swedish Families

    ERIC Educational Resources Information Center

    Lennartsson, Carin; Silverstein, Merril; Fritzell, Johan

    2010-01-01

    Despite the maturation of welfare states, family solidarity continues to be strong and a growing body of research has shown that substantial financial transfers are passed from older to younger generations within the family. At the same time, family solidarity in terms of instrumental and social support is found to be mutual. This study examines…

  12. Work–family conflict and health in Swedish working women and men: a 2-year prospective analysis (the SLOSH study)

    PubMed Central

    Baltzer, Maria; Magnusson Hanson, Linda L.; Westerlund, Hugo

    2013-01-01

    Background: Research has suggested that gender is related to perceptions of work–family conflict (WFC) and an underlying assumption is that interference of paid work with family life will burden women more than men. There is, however, mixed evidence as to whether men and women report different levels of WFC. Even less studies investigate gender differences in health outcomes of WFC. Also the number of longitudinal studies in this field is low. Methods: Based on the Swedish Longitudinal Occupational Survey of Health, we prospectively examined the effects of WFC on three different health measures representing a wide spectrum off ill health (i.e. self-rated health, emotional exhaustion and problem drinking). Logistic regression analyses were used to analyse multivariate associations between WFC in 2008 and health 2 years later. Results: The results show that WFC was associated with an increased risk of emotional exhaustion among both men and women. Gender differences are suggested as WFC was related to an increased risk for poor self-rated health among women and problem drinking among men. Interaction analyses revealed that the risk of poor self-rated health was substantially more influenced by WFC among women than among men. Conclusions: We conclude that, despite the fact that women experience conflict between work and family life slightly more often than men, both men’s and women’s health is negatively affected by this phenomenon. PMID:22683777

  13. Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families.

    PubMed

    Hashemi, J; Bendahl, P O; Sandberg, T; Platz, A; Linder, S; Stierner, U; Olsson, H; Ingvar, C; Hansson, J; Borg, A

    2001-06-01

    Germline mutations in the CDKN2A tumor suppressor gene located on 9p21 have been linked to development of melanomas in some families. A germline 3-bp insertion in exon 2 of CDKN2A, leading to an extra arginine at codon 113 (113insR), has been identified in 17 Swedish melanoma families. Analysis of 10 microsatellite markers, spanning approximately 1 Mbp in the 9p21 region, showed that all families share a common allele for at least one of the markers closest to the CDKN2A gene, suggesting that the 113insR mutation is an ancestral founder mutation. Differences in the segregating haplotypes, due to meiotic recombinations and/or mutations in the short-tandem-repeat markers, were analyzed further to estimate the age of the mutation. Statistical analysis using a maximum likelihood approach indicated that the mutation arose 98 generations (90% confidence interval: 52-167 generations), or approximately 2,000 years, ago. Thus, 113insR would be expected to have a more widespread geographic distribution in European and North American regions with ancestral connections to Sweden. Alternatively, CDKN2A may lie in a recombination hot spot region, as suggested by the many meiotic recombinations in this narrow approximately 1-cM region on 9p21. PMID:11319798

  14. Genetic homogeneity in Sjoegren-Larsson syndrome: Linkage to chromosome 17p in families of different non-Swedish ethnic origins

    SciTech Connect

    Rogers, G.R.; Lee, M.; Compton, J.G.

    1995-11-01

    Sjoegren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. Three United States families, three Egyptian families, and one Israeli Arab family were investigated for linkage of the SLS gene to a region of chromosome 17. Pairwise and multipoint linkage analysis with nine markers mapped the SLS gene to the same region of the genome as that reported in Swedish SLS pedigrees. Examination of recombinants by haplotype analysis showed that the gene lies in the region containing the markers D17S953, D17S805, D17S689, and D17S842. D17S805 is pericentromeric on 17p. Patients in two consanguineous Egyptian families were homozygous at the nine marker loci tested, and another patient from a third family was homozygous for eight of the nine, suggesting that within each of these families the region of chromosome 17 carrying the SLS gene is identical by descent. Linkage of the SLS gene to chromosome 17p in families of Arabic, mixed European, Native American, and Swedish descent provides evidence for a single SLS locus and should prove useful for diagnosis and carrier detection in worldwide cases. 25 refs., 4 figs., 1 tab.

  15. A preliminary assessment of environmental noise from large Wind Energy Conversion Systems (WECS) based on experiences from Swedish prototypes

    NASA Astrophysics Data System (ADS)

    Ljunggren, S.

    1984-10-01

    Noise at Swedish 3 and 2 MW wind energy converters was measured. It is shown that the noise levels are close to those measured at similar units in the United States, and that the radiation is uniform in the vertical and horizontal plane. A comparatively large distance (800 to 2500 m) is needed between the prototypes and residential locations if the same basis for forming a judgement is used as for industrial noise. With suitable measures (sound insulation of machinery housing, increased cut-in wind speed, variable rotational speed of turbine) the distance for an upwind unit is reduced to 300 to 500 m, provided the masking effect of natural wind sound is taken into account.

  16. Child health care utilisation in families with young or single mothers in a Swedish county.

    PubMed

    Wallby, Thomas; Modin, Bitte; Hjern, Anders

    2013-03-01

    Young age and lone parenthood are risk factors for impaired health among mothers and their children. Due to the higher risks of negative influences on physical and mental health, young and single mothers should be of special concern to the Child Health Services (CHS). In the present study, we investigated consumption patterns of child health care services among young and single mothers in Uppsala County, Sweden to study whether they are reached by the universal CHS program and if selective or indicative measures were administered in daily CHS practice. Register data on CHS contacts and socio-demographic indicators were collected for 10692 infants, born in 1998-2006. Results show small differences in contact pattern and immunization status, between children of young versus older, and single versus cohabiting mothers. However, both young (RR 0.64) and single (RR 0.80) mothers had significantly lower rates of participation in parental group. The CHS were consequently successful in implementing the universal preventive child health programme for all families, including families with young or single mothers. There was no indication, however, of an established selective preventive strategy aimed at these high risk families. Programs for strengthening the support provided to vulnerable families by the CHS are needed. PMID:23197384

  17. Strategies for Learning Experiences in Family Child Care: American and Swedish Perspectives

    ERIC Educational Resources Information Center

    Freeman, Ramona; Karlsson, Fil dr Malene

    2012-01-01

    The outlook for teaching and learning in the homes of family child care (also called "day care" and "child minding" [the latter term is used in the United Kingdom]) is both promising and precarious. The authors believe such programs hold potential for high-quality learning, yet they suffer from lack of recognition and support. Originally, family…

  18. Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families.

    PubMed

    Ekelund, Elisabeth; Liedén, Agne; Link, Jenny; Lee, Simon P; D'Amato, Mauro; Palmer, Colin N A; Kockum, Ingrid; Bradley, Maria

    2008-01-01

    Recent studies have identified 2 loss-of-function variants, R501X and 2282del4, in the filaggrin gene as predisposing factors in the development of eczema. In this study, representing the first analysis of the variants in a Swedish population, we analysed transmission in 406 multiplex eczema families with mainly adult patients. In accordance with previous studies we found association between the filaggrin gene variants and atopic eczema (p=9.5 x 10(-8)). The highest odds ratio for the combined allele, 4.73 (1.98-11.29), p=3.6 x 10(-8), was found for the subgroup with a severe eczema phenotype, and association was also found with raised allergen-specific IgE, allergic asthma and allergic rhinoconjunctivitis occurring in the context of eczema. Our results support an important role for the filaggrin gene variants R501X and 2282del4 in the development and severity of atopic eczema and indicate a possible role for the subsequent progression into eczema-associated phenotypes. PMID:18176743

  19. Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

    PubMed

    Einarsdottir, Elisabet; Svensson, Idor; Darki, Fahimeh; Peyrard-Janvid, Myriam; Lindvall, Jessica M; Ameur, Adam; Jacobsson, Christer; Klingberg, Torkel; Kere, Juha; Matsson, Hans

    2015-11-01

    Developmental dyslexia is the most common learning disorder in children. Problems in reading and writing are likely due to a complex interaction of genetic and environmental factors, resulting in reduced power of studies of the genetic factors underlying developmental dyslexia. Our approach in the current study was to perform exome sequencing of affected and unaffected individuals within an extended pedigree with a familial form of developmental dyslexia. We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with developmental dyslexia in this pedigree. This mutation is novel, and predicted to be highly damaging for the function of the protein. 3D modelling suggested a distinct conformational change caused by the mutation. CEP63 is localised to the centrosome in eukaryotic cells and is required for maintaining normal centriole duplication and control of cell cycle progression. We found that a common polymorphism in the CEP63 gene had a significant association with brain white matter volume. The brain regions were partly overlapping with the previously reported region influenced by polymorphisms in the dyslexia susceptibility genes DYX1C1 and KIAA0319. We hypothesise that CEP63 is particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated. PMID:26400686

  20. Large bearings with incorporated gears, high stiffness, and precision for the Swedish Solar Telescope (SST) on La Palma

    NASA Astrophysics Data System (ADS)

    Hammerschlag, Robert H.; Bettonvil, Felix C. M.; Jägers, Aswin P. L.; Scharmer, Göran B.

    2006-06-01

    The 1-meter Swedish Solar Telescope (SST) obtains images of the solar surface with an unprecedented resolution of 0.1 arcsec. It consists of a relatively slender tower with on top only the vacuum turret for reflecting downward the solar beam and no protective dome. This is a favourable situation to get good local seeing. Just in the case of some wind, seeing is best for daytime observations, therefore the precision bearings and drives of the elevation- and azimuth axis of the turret have to be stiff against wind. This requires line contact between the meshing teeth of the large gear wheel and the pinion. High preload forces to achieve line contact are not allowed because of appearing stick-slip effects. To reduce the risk on stick-slip a special design of the teeth for high stiffness combined with low friction and smooth transition from one tooth to the next was made. Furthermore, extreme precision in the fabrication was pursued such that relatively small contact forces give already line contact. This required a special order of the successive fabrication steps of the combination of bearing and gear teeth. An additional problem was the relatively thin section of the bearings required for a compact turret construction, needed for best local seeing and minimum wind load. Solutions for all these problems will be discussed. For the large gears the exceptional good DIN quality class 4 for the pitch precision and straightness plus direction of the teeth faces was achieved.

  1. Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

    PubMed

    Frykholm, Carina; Klar, Joakim; Arnesson, Hanna; Rehnman, Anna-Carin; Lodahl, Marianne; Wedén, Ulla; Dahl, Niklas; Tranebjærg, Lisbeth; Rendtorff, Nanna D

    2015-05-25

    Linkage to an interval overlapping the DFNA10 locus on chromosome 6q22-23 was found through genome wide linkage analysis in a seven-generation Swedish family segregating postlingual, autosomal dominant nonsyndromic sensorineural hearing impairment. A novel heterozygous frame-shift mutation (c.579_580insTACC, p.(Asp194Tyrfs*52)) in EYA4 was identified that truncates the so-called variable region of the protein. The mutation is predicted to result in haploinsufficiency of the EYA4 product. No evidence for dilated cardiomyopathy was found in the family, contrasting to a previous family with a deletion resulting in a similar truncation in the variable region. A highly variable age of onset was seen in the mutation carriers. For assessment of the aetiology of this variability, clinical and audiometric data analyses were performed. The affected family members all had similar cross-sectional and longitudinal deterioration of pure tone average (PTA) once the process of hearing deterioration had started, and no gender, parent-of-origin or family branch differences on PTA could be found. Age at onset varied between the family branches. In summary, this is the ninth published genetically verified DFNA10 family. The results imply that unidentified factors, genetic or environmental, other than the EYA4 mutation, are of importance for the age at onset of DFNA10, and that mutation early in the variable region of the EYA4 protein can occur in the absence of dilated cardiomyopathy. PMID:25681523

  2. Little Brother Joins the Large Family

    NASA Astrophysics Data System (ADS)

    2006-12-01

    On the night of 15 December 2006, the fourth and last-to-be-installed VLTI Auxiliary Telescope (AT4) obtained its 'First Light'. The first images demonstrate that AT4 will be able to deliver the excellent image quality already delivered by the first three ATs. It will soon join its siblings to perform routinely interferometric measurements. ESO PR Photo 51a/06 ESO PR Photo 51a/06 VLT Auxiliary Telescope The VLT is composed of four 8.2-m Unit Telescope (Antu, Kueyen, Melipal and Yepun). They have been progressively put into service together with a vast suite of the most advanced astronomical instruments and are operated every night in the year. Contrary to other large astronomical telescopes, the VLT was designed from the beginning with the use of interferometry as a major goal. The VLT Interferometer (VLTI) combines starlight captured by two or three 8.2- VLT Unit Telescopes, dramatically increasing the spatial resolution and showing fine details of a large variety of celestial objects. ESO PR Photo 51b/06 ESO PR Photo 51b/06 One AT Under the Sky However, most of the time the large telescopes are used for other research purposes. They are therefore only available for interferometric observations during a limited number of nights every year. Thus, in order to exploit the VLTI each night and to achieve the full potential of this unique setup, some other (smaller), dedicated telescopes were included into the overall VLT concept. These telescopes, known as the VLTI Auxiliary Telescopes (ATs), are mounted on tracks and can be placed at precisely defined "parking" observing positions on the observatory platform. From these positions, their light beams are fed into the same common focal point via a complex system of reflecting mirrors mounted in an underground system of tunnels. The Auxiliary Telescopes are real technological jewels. They are placed in ultra-compact enclosures, complete with all necessary electronics, an air conditioning system and cooling liquid for

  3. Perinatal and Family Risk Factors for Non-Hodgkin Lymphoma in Early Life: A Swedish National Cohort Study

    PubMed Central

    Sundquist, Kristina; Sieh, Weiva; Winkleby, Marilyn A.; Sundquist, Jan

    2012-01-01

    Background The incidence of non-Hodgkin lymphoma (NHL) in early life has increased in recent decades, but the relevant risk factors remain largely unknown. We examined perinatal and family risk factors for NHL in childhood through young adulthood. Methods We conducted a national cohort study of 3 571 574 individuals born in Sweden in 1973–2008 who were followed for incidence of NHL through 2009 (ages 0–37 years). Detailed information on perinatal and family characteristics and NHL diagnoses were obtained from national birth and cancer registries. Cox proportional hazards regression was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for the association between perinatal and family variables and NHL; P values are from two-sided tests. Results There were 936 NHL case patients identified in 66.3 million person-years of follow-up. Independent risk factors for NHL included family history of NHL in either a sibling (adjusted HR = 9.84; 95% CI = 2.46 to 39.41; P = .001) or parent (adjusted HR = 2.36; 95% CI = 1.27 to 4.38; P = .007); high fetal growth (for ≥2 SDs relative to 0 to <1 SD from the mean: adjusted HR = 1.64; 95% CI = 1.19 to 2.25; P = .002); older maternal age (adjusted HR for each 5-year increment = 1.11; 95% CI = 1.04 to 1.19; P trend = .004); low birth order (adjusted HR for each increment of one birth = 0.91; 95% CI = 0.84 to 0.99; P trend = .02); and male sex (adjusted HR = 1.58; 95% CI = 1.38 to 1.80; P < .001). Male sex was associated with onset of NHL before 15 years of age but not with later-onset NHL, whereas the other risk factors did not vary by age at diagnosis. No association was found between gestational age at birth, twinning, paternal age, or parental education and NHL. Conclusion In this large national cohort study, family history of NHL, high fetal growth, older maternal age, low birth order, and male sex were independent risk factors for NHL in early life. PMID:22623506

  4. Family environment and the malleability of cognitive ability: a Swedish national home-reared and adopted-away cosibling control study.

    PubMed

    Kendler, Kenneth S; Turkheimer, Eric; Ohlsson, Henrik; Sundquist, Jan; Sundquist, Kristina

    2015-04-14

    Cognitive ability strongly aggregates in families, and prior twin and adoption studies have suggested that this is the result of both genetic and environmental factors. In this study, we used a powerful design--home-reared and adopted-away cosibling controls--to investigate the role of the rearing environment in cognitive ability. We identified, from a complete national Swedish sample of male-male siblings, 436 full-sibships in which at least one member was reared by one or more biological parents and the other by adoptive parents. IQ was measured at age 18-20 as part of the Swedish military service conscription examination. Parental educational level was rated on a 5-point scale. Controlling for clustering of offspring within biological families, the adopted siblings had an IQ 4.41 (SE = 0.75) points higher than their nonadopted siblings. Each additional unit of rearing parental education was associated with 1.71 (SE = 0.44) units of IQ. We replicated these results in 2,341 male-male half-sibships, in which, controlling for clustering within families, adoption was associated with a gain of IQ of 3.18 (SE = 0.34) points. Each additional unit of rearing parental education was associated with 1.94 (SE = 0.18) IQ units. Using full- and half-sibling sets matched for genetic background, we found replicated evidence that (i) rearing environment affects IQ measured in late adolescence, and (ii) a portion of the IQ of adopted siblings could be explained by the educational level of their adoptive parents. PMID:25831538

  5. Genetic studies of bipolar affective disorder in large families.

    PubMed

    Blackwood, D H; Visscher, P M; Muir, W J

    2001-06-01

    Background Genetic factors are known to be important in the aetiology of bipolar disorder. Aims To review linkage studies in extended families multiply affected with bipolar disorder. Method Selective review of linkage studies of bipolar disorder emphasising the gains and drawbacks of studying large multiply-affected families and comparing the statistical methods used for data analysis. Results Linkage of bipolar disorder to several chromosome regions including 4p, 4q, 10p, 12q, 16p, 18q, 21q and Xq has first been reported in extended families. In other families chromosomal rearrangements associated with affective illnesses provide signposts to the location of disease-related genes. Statistical analyses using variance component methods can be applied to extended families, require no prior knowledge of the disease inheritance, and can test multilocus models. Conclusion Studying single large pedigrees combined with variance component analysis is an efficient and effective strategy likely to lead to further insights into the genetic basis of bipolar disorders. PMID:11388952

  6. A large family characterised by nocturnal sudden death

    PubMed Central

    van den Berg, M.P.; Viersma, J.W.; Beaufort-Krol, G.C.M.; Bink-Boelkens, M.Th.E.; Bezzina, C.R.; Veldkamp, M.W.; Brouwer, J.; Haaksma, J.; van Tintelen, J.P.; van Langen, I.M.; Wouda, A.A.; Wilde, A.A.M.

    2002-01-01

    Background We recently identified a novel mutation in large family characterised by premature nocturnal sudden death. In the present paper we provide an overview of the findings in this family. Methods From 1958 onwards, when the first patient presented, we collected clinical data on as many family members as possible. After identification in 1998 of the underlying genetic disorder (SCN5A, 1795insD), genotyping was performed diagnostically. Results Since 1905 unexplained sudden death occurred in 26 family members, 17 of whom died during the night. Besides sudden death, symptomatology was rather limited; only six patients reported syncopal attacks. In one of them, a 13-year-old boy, asystolic episodes up to nine seconds were documented. Until now, the mutation has been found in 114 family members (57 males, 57 females). Carriers of the mutant gene exhibited bradycardia-dependent QT-prolongation, intrinsic sinus node dysfunction, generalised conduction abnormalities, a paucity of ventricular ectopy, and the Brugada sign. Cardiomyopathy or other structural abnormalities were not found in any of the carriers. Electrophysiological studies showed that mutant channels were characterised by markedly reduced INa amplitude, a positive shift of voltage-dependence of activation and a substantial negative shift of voltage-dependence of inactivation of INa. From 1978 onwards, a pacemaker for anti-brady pacing was implanted for prevention of sudden death. In patients in whom a prophylactic pacemaker was implanted no unexplained sudden death occurred, whereas 5 sudden deaths occurred in the group of patients who did not receive a pacemaker. Conclusion We have described a large family with a SCN5A-linked disorder (1795insD) with features of LQT3, Brugada syndrome and familial conduction system disease. Anti-brady pacing was successful in preventing sudden death. The mode of death is possibly bradycardic. ImagesFigure 5 PMID:25696119

  7. Long term mental health outcomes of Finnish children evacuated to Swedish families during the second world war and their non-evacuated siblings: cohort study

    PubMed Central

    Betancourt, Theresa S; Gilman, Stephen E

    2015-01-01

    Objectives To compare the risks of admission to hospital for any type of psychiatric disorder and for four specific psychiatric disorders among adults who as children were evacuated to Swedish foster families during the second world war and their non-evacuated siblings, and to evaluate whether these risks differ between the sexes. Design Cohort study. Setting National child evacuation scheme in Finland during the second world war. Participants Children born in Finland between 1933 and 1944 who were later included in a 10% sample of the 1950 Finnish census ascertained in 1997 (n=45 463; women: n=22 021; men: n=23 442). Evacuees in the sample were identified from war time government records. Main outcome measure Adults admitted to hospital for psychiatric disorders recorded between 1971 and 2011 in the Finnish hospital discharge register. Methods We used Cox proportional hazards models to estimate the association between evacuation to temporary foster care in Sweden during the second world war and admission to hospital for a psychiatric disorder between ages 38 and 78 years. Fixed effects methods were employed to control for all unobserved social and genetic characteristics shared among siblings. Results Among men and women combined, the risk of admission to hospital for a psychiatric disorder did not differ between Finnish adults evacuated to Swedish foster families and their non-evacuated siblings (hazard ratio 0.89, 95% confidence interval 0.64 to 1.26). Evidence suggested a lower risk of admission for any mental disorder (0.67, 0.44 to 1.03) among evacuated men, whereas for women there was no association between evacuation and the overall risk of admission for a psychiatric disorder (1.21, 0.80 to 1.83). When admissions for individual psychiatric disorders were analyzed, evacuated girls were significantly more likely than their non-evacuated sisters to be admitted to hospital for a mood disorder as an adult (2.19, 1.10 to 4.33). Conclusions The Finnish

  8. New Sequences with Low Correlation and Large Family Size

    NASA Astrophysics Data System (ADS)

    Zeng, Fanxin

    In direct-sequence code-division multiple-access (DS-CDMA) communication systems and direct-sequence ultra wideband (DS-UWB) radios, sequences with low correlation and large family size are important for reducing multiple access interference (MAI) and accepting more active users, respectively. In this paper, a new collection of families of sequences of length pn-1, which includes three constructions, is proposed. The maximum number of cyclically distinct families without GMW sequences in each construction is φ(pn-1)/n·φ(pm-1)/m, where p is a prime number, n is an even number, and n=2m, and these sequences can be binary or polyphase depending upon choice of the parameter p. In Construction I, there are pn distinct sequences within each family and the new sequences have at most d+2 nontrivial periodic correlation {-pm-1, -1, pm-1, 2pm-1,…,dpm-1}. In Construction II, the new sequences have large family size p2n and possibly take the nontrivial correlation values in {-pm-1, -1, pm-1, 2pm-1,…,(3d-4)pm-1}. In Construction III, the new sequences possess the largest family size p(d-1)n and have at most 2d correlation levels {-pm-1, -1,pm-1, 2pm-1,…,(2d-2)pm-1}. Three constructions are near-optimal with respect to the Welch bound because the values of their Welch-Ratios are moderate, WR_??_d, WR_??_3d-4 and WR_??_2d-2, respectively. Each family in Constructions I, II and III contains a GMW sequence. In addition, Helleseth sequences and Niho sequences are special cases in Constructions I and III, and their restriction conditions to the integers m and n, pm≠2 (mod 3) and n≅0 (mod 4), respectively, are removed in our sequences. Our sequences in Construction III include the sequences with Niho type decimation 3·2m-2, too. Finally, some open questions are pointed out and an example that illustrates the performance of these sequences is given.

  9. "Doesn't Everyone Want That? It's Just a Given": Swedish Emerging Adults' Expectations on Future Parenthood and Work/Family Priorities

    ERIC Educational Resources Information Center

    Frisén, Ann; Carlsson, Johanna; Wängqvist, Maria

    2014-01-01

    This study investigated Swedish emerging adults' expectations on future parenthood through interviews with 124 Swedish emerging adults who were not yet parents. Thematic analysis showed that most participants were sure they wanted to become parents, but not right now. First, they wanted a stable financial situation, a romantic relationship,…

  10. Exploring the relationship between safety culture and reported dispensing errors in a large sample of Swedish community pharmacies

    PubMed Central

    2012-01-01

    Background The potential for unsafe acts to result in harm to patients is constant risks to be managed in any health care delivery system including pharmacies. The number of reported errors is influenced by a various elements including safety culture. The aim of this study is to investigate a possible relationship between reported dispensing errors and safety culture, taking into account demographic and pharmacy variables, in Swedish community pharmacies. Methods A cross-sectional study was performed, encompassing 546 (62.8%) of the 870 Swedish community pharmacies. All staff in the pharmacies on December 1st, 2007 were included in the study. To assess safety culture domains in the pharmacies, the Safety Attitudes Questionnaire (SAQ) was used. Numbers of dispensed prescription items as well as dispensing errors for each pharmacy across the first half year of 2008 were summarised. Intercorrelations among a number of variables including SAQ survey domains, general properties of the pharmacy, demographic characteristics, and dispensing errors were calculated. A negative binomial regression model was used to further examine the relationship between the variables and dispensing errors. Results The first analysis demonstrated a number of significant correlations between reported dispensing errors and the variables examined. Negative correlations were found with SAQ domains Teamwork Climate, Safety Climate, Job Satisfaction as well as mean age and response rates. Positive relationships were demonstrated with Stress Recognition (SAQ), number of employees, educational diversity, birth country diversity, education country diversity and number of dispensed prescription items. Variables displaying a significant relationship to errors in this analysis were included in the regression analysis. When controlling for demographic variables, only Stress Recognition, mean age, educational diversity and number of dispensed prescription items and employees, were still associated with

  11. Airfoil family design for large offshore wind turbine blades

    NASA Astrophysics Data System (ADS)

    Méndez, B.; Munduate, X.; San Miguel, U.

    2014-06-01

    Wind turbine blades size has scaled-up during last years due to wind turbine platform increase especially for offshore applications. The EOLIA project 2007-2010 (Spanish Goverment funded project) was focused on the design of large offshore wind turbines for deep waters. The project was managed by ACCIONA Energia and the wind turbine technology was designed by ACCIONA Windpower. The project included the design of a wind turbine airfoil family especially conceived for large offshore wind turbine blades, in the order of 5MW machine. Large offshore wind turbines suffer high extreme loads due to their size, in addition the lack of noise restrictions allow higher tip speeds. Consequently, the airfoils presented in this work are designed for high Reynolds numbers with the main goal of reducing blade loads and mantainig power production. The new airfoil family was designed in collaboration with CENER (Spanish National Renewable Energy Centre). The airfoil family was designed using a evolutionary algorithm based optimization tool with different objectives, both aerodynamic and structural, coupled with an airfoil geometry generation tool. Force coefficients of the designed airfoil were obtained using the panel code XFOIL in which the boundary layer/inviscid flow coupling is ineracted via surface transpiration model. The desing methodology includes a novel technique to define the objective functions based on normalizing the functions using weight parameters created from data of airfoils used as reference. Four airfoils have been designed, here three of them will be presented, with relative thickness of 18%, 21%, 25%, which have been verified with the in-house CFD code, Wind Multi Block WMB, and later validated with wind tunnel experiments. Some of the objectives for the designed airfoils concern the aerodynamic behavior (high efficiency and lift, high tangential coefficient, insensitivity to rough conditions, etc.), others concern the geometry (good for structural design

  12. Glycogenosis type VII (Tarui disease) in a Swedish family: Two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions

    SciTech Connect

    Nichols, R.C.; Exelbert, R.; Plotz, P.H.

    1996-07-01

    Phosphofructokinase (PFK) plays a major role in glycolysis. Human PFK is composed of three isoenzyme subunits (muscle [M], liver [L], and platelet [P]), which are encoded by different genes. Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. Several disease-causing mutations have been identified in the PFK-M gene in Japanese, Ashkenazi Jewish, Italian, French Canadian, and Swiss patients. We describe the genetic defect in a Swedish family with affected individuals in two generations. The patients are compound heterozygotes: two different mutations result in retention of intron 13 or intron 16 sequences into mRNA. A G1127A transition destroys the 5{prime} donor site of intron 13, resulting in a 155-nt retention of the intronic sequence. An a-to-g base change in intron 16 creates a new acceptor splice site, resulting in a 63-nt retention of intronic sequence. Both mutations are predicted to result in premature termination of translation. Some of the transcripts generated from the intron 16 mutated allele also contain intron 10 sequence unspliced. 34 refs., 6 figs.

  13. Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant

    PubMed Central

    Svensson, Anneli; Åström-Aneq, Meriam; Widlund, Kjerstin Ferm; Fluur, Christina; Green, Anna; Rehnberg, Malin; Gunnarsson, Cecilia

    2016-01-01

    In this study, the genotype-phenotype correlations in four unrelated families with a PKP2 c.2146-1G>C gene variant were studied. Our primary aim was to determine the carriers that fulfilled the arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnostic criteria of 2010. Our secondary aim was to investigate whether any specific clinical characteristics can be attributed to this particular gene variant. Index patients were assessed using next generation ARVC panel sequencing technique and their family members were assessed by Sanger sequencing targeted at the PKP2 c.2146-1G>C variant. The gene variant carriers were offered a clinical follow-up, with evaluation based on the patient’s history and a standard set of non-invasive testing. The PKP2 c.2146-1G>C gene variant was found in 23 of 41 patients who underwent the examination. Twelve of the 19 family members showed “possible ARVC”. One with “borderline ARVC” and the rest with “definite ARVC” demonstrated re-polarization disturbances, but arrhythmia was uncommon. A lethal event occurred in a 14-year-old boy. In the present study, no definitive genotype-phenotype correlations were found, where the majority of the family members carrying the PKP2 c.2146-1G>C gene variant were diagnosed with “possible ARVC”. These individuals should be offered a long-term follow-up since they are frequently symptomless but still at risk for insidious sudden cardiac death due to ventricular arrhythmia. PMID:27335691

  14. Triparental Families: A New Genetic-Epidemiological Design Applied to Drug Abuse, Alcohol Use Disorders, and Criminal Behavior in a Swedish National Sample

    PubMed Central

    Kendler, Kenneth S.; Ohlsson, Henrik; Sundquist, Jan; Sundquist, Kristina

    2015-01-01

    Objective The authors sought to clarify the sources of parent-offspring resemblance for drug abuse, alcohol use disorders, and criminal behavior, using a novel genetic-epidemiological design. Method Using national registries, the authors identified rates of drug abuse, alcohol use disorders, and criminal behavior in 41,360 Swedish individuals born between 1960 and 1990 and raised in triparental families comprising a biological mother who reared them, a “not-lived-with” biological father, and a stepfather. Results When each syndrome was examined individually, hazard rates for drug abuse in offspring of parents with drug abuse were highest for mothers (2.80, 95% CI=2.23–3.38), intermediate for not-lived-with fathers (2.45,95%CI=2.14–2.79), and lowest for stepfathers (1.99, 95% CI=1.55–2.56). The same pattern was seen for alcohol use disorders (2.23, 95% CI=1.93–2.58; 1.84, 95% CI=1.69–2.00; and 1.27, 95% CI=1.12–1.43) and criminal behavior (1.55, 95% CI=1.44–1.66; 1.46, 95%CI=1.40–1.52; and1.30, 95% CI=1.23–1.37). When all three syndromes were examined together, specificity of cross-generational transmission was highest for mothers, intermediate for not-lived-with fathers, and lowest for stepfathers. Analyses of intact families and other not-lived-with parents and stepparents showed similar cross-generation transmission for these syndromes in mothers and fathers, supporting the representativeness of results from triparental families. Conclusions A major strength of the triparental design is its inclusion, within a single family, of parents who provide, to a first approximation, their offspring with genes plus rearing, genes only, and rearing only. For drug abuse, alcohol use disorders, and criminal behavior, the results of this study suggest that parent-offspring transmission involves both genetic and environmental processes, with genetic factors being somewhat more important. These results should be interpreted in the context of the strengths

  15. Paradigms in Swedish as a Second Language--Curricula for Primary School and Secondary School in Swedish as a Second Language

    ERIC Educational Resources Information Center

    Magnusson, Ulrika

    2013-01-01

    This article analyzes and compares the curricula of Swedish and Swedish as a second language for primary and secondary school. The school subject of Swedish as a second language is young, and its ideological foundation has not been debated to any large extent, in contrast to Swedish. This article analyzes the curricula of both subjects in terms of…

  16. Family History of Education Predicts Eating Disorders across Multiple Generations among 2 Million Swedish Males and Females

    PubMed Central

    Goodman, Anna; Heshmati, Amy; Koupil, Ilona

    2014-01-01

    Purpose To investigate which facets of parent and grandparent socio-economic position (SEP) are associated with eating disorders (ED), and how this varies by ED subtype and over time. Methods Total-population cohort study of 1,040,165 females and 1,098,188 males born 1973–1998 in Sweden, and followed for inpatient or outpatient ED diagnoses until 2010. Proportional hazards models estimated associations with parental education, income and social class, and with grandparental education and income. Results 15,747 females and 1051 males in our sample received an ED diagnosis, with rates increasing in both sexes over time. ED incidence in females was independently predicted by greater educational level among the father, mother and maternal grandparents, but parent social class and parental income showed little or no independent effect. The associations with education were equally strong for anorexia nervosa, bulimia nervosa and ED not-otherwise-specified, and had increased over time. Among males, an apparently similar pattern was seen with respect to anorexia nervosa, but non-anorexia ED showed no association with parental education and an inverse association with parental income. Conclusions Family history of education predicts ED in gender- and disorder-specific ways, and in females the effect is observed across multiple generations. Particularly given that these effects may have grown stronger in more recent cohorts, these findings highlight the need for further research to clarify the underlying mechanisms and identify promising targets for prevention. Speculatively, one such mechanism may involve greater internal and external demands for academic success in highly educated families. PMID:25162402

  17. KIC 8462852: Transit of a Large Comet Family

    NASA Astrophysics Data System (ADS)

    Bodman, Eva H. L.; Quillen, Alice

    2016-03-01

    We investigate the plausibility of a cometary source of the unusual transits observed in the KIC 8462852 light curve. A single comet of similar size to those in our solar system produces a transit depth of the order of 10-3 lasting less than a day which is much smaller and shorter than the largest dip observed (˜ 20% for ˜3 days), but a large, closely traveling cluster of comets can fit the observed depths and durations. We find that a series of large comet swarms, with all except one on the same orbit, provides a good fit for the KIC 8462852 data during Quarters 16 and 17, but does not explain the large dip observed during Quarter 8. However, the transit dips only loosely constrain the orbits and can be fit by swarms with periastrons differing by a factor of 10. To reach a transit depth of ˜0.2, the comets need to be in a close group of ˜30, if they are ˜100 km in radius or in a group of ˜300 if they are ˜10 km in radius. The total number of comets required to fit all of the dips is ˜70 ˜ 100 km or ˜700 ˜ 10 km comets. A single comet family from a tidally disrupted Ceres-sized progenitor or the start of a Late Heavy Bombardment period explains the last ˜60 days of the unusual KIC 8462852 light curve.

  18. Cystic fibrosis in a large kindred family in Qatar.

    PubMed

    Abdul Wahab, A; Dawod, S T; al Thani, G

    2000-09-01

    We describe 45 patients with cystic fibrosis (CF), diagnosed between June 1987 and May 1999, seen at the Hamad Medical Corporation, Qatar in the Arabian Gulf. Twenty-six of 32 families in the study were related and belonged to the same Bedouin tribe. The parents of 98% of these cases were consanguineous. Metabolic alkalosis and/or hypo-electrolytaemia were found in a large proportion of infants with CF. Cystic fibrosis in Qatari children is phenotypically variable with mild to moderate respiratory symptoms, and none of them died during this study. Among the non-Arabic-Asian patients, pulmonary symptoms were more severe, Pseudomonas colonization was earlier, pancreatic insufficiency occurred in infancy and four died in early life. PMID:11064773

  19. Familial pattern of large vestibular aqueduct syndrome in a Chinese family

    PubMed Central

    Hazmi, Mohd; Ab Aziz, A.; Asma, A.

    2013-01-01

    Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss. PMID:27034633

  20. Familial pattern of large vestibular aqueduct syndrome in a Chinese family.

    PubMed

    Hazmi, Mohd; Ab Aziz, A; Asma, A

    2013-01-01

    Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss. PMID:27034633

  1. The Perceptions and Views on Family Interaction and Relationships of Middle Children from Large Families: An Informal Mini Survey.

    ERIC Educational Resources Information Center

    Hall, Elena C. Thomas

    In Adler's Theory of Individual Psychology the significance of birth order position in the family constellation depends on the interpretation given to it by the child, which in turn influences his character. This study surveyed the perceptions of middle children in large families. Subjects (N=13) were middle children in families of more than five…

  2. Social capital in relation to depression, musculoskeletal pain, and psychosomatic symptoms: a cross-sectional study of a large population-based cohort of Swedish adolescents

    PubMed Central

    2010-01-01

    Background Social capital has lately received much attention in health research. The present study investigated whether two measures of subjective social capital were related to psychosomatic symptoms, musculoskeletal pain, and depression in a large population of Swedish adolescents. Methods A total of 7757 13-18 year old students anonymously completed the Survey of Adolescent Life in Vestmanland 2008 which included questions on sociodemographic background, neighbourhood social capital, general social trust, and ill health. Results Low neighbourhood social capital and low general social trust were associated with higher rates of psychosomatic symptoms, musculoskeletal pain, and depression. Individuals with low general social trust had more than three times increased odds of being depressed, three times increased odds of having many psychosomatic symptoms, and double the odds of having many symptoms of musculoskeletal pain. Conclusions The findings make an important contribution to the social capital - health debate by demonstrating relations between social capital factors and self-reported ill health in a young population. PMID:21092130

  3. Are families poor because they are large or are they large because they are poor?

    PubMed

    Pernia, E M

    1982-01-01

    In the Philippines time allocation studies suggest that children cost considerable amounts of time and energy on the part of the mother and other siblings in addition to direct financial outlays which figure prominently. Yet, these costs seem to be compensated for by economic and noneconomic benefits. The time costs of children are moderated to the extent that mother's time has a low opportunity cost, given lack of marketable skills or sheer absence of employment opportunities. It is at the expense of investment in human capital (in terms of education and health) that economic benefits from child labor are forthcoming. As neither unemployment of the mother nor child labor is desirable, it would seem that economic benefits from children are expensive. The child's mental and physical development tends to be impaired due to deficient health, nutrition, and education inputs because family resources and parental care have to be spread so thinly among the many competing demands of the large family. Mother's health is negatively affected by frequent and closely spaced pregnancies, and she is effectively prevented from actual or potential participation in development. It is to these less immediate and not directly observable disadvantages of a large family that parents must be sensitized so that they will realize the need to limit family size. From the social perspective, the population program may be viewed as a strategy for human resource development. The challenge to policymakers has become formidable. Due to rapidly increasing population, the need to telescope the reduction of income inequality and poverty has become urgent. Continuing population growth tends to nullify whatever advances are made toward the distributional objective. Population and development policy needs to be directed to the poor in rural areas in general and more specifically to the rural poor in the backward regions of the Visayas, Bicol, Bocos, and Northern Mindanao. Given the extreme poverty of

  4. A family of dynamic models for large-eddy simulation

    NASA Technical Reports Server (NTRS)

    Carati, D.; Jansen, K.; Lund, T.

    1995-01-01

    Since its first application, the dynamic procedure has been recognized as an effective means to compute rather than prescribe the unknown coefficients that appear in a subgrid-scale model for Large-Eddy Simulation (LES). The dynamic procedure is usually used to determine the nondimensional coefficient in the Smagorinsky (1963) model. In reality the procedure is quite general and it is not limited to the Smagorinsky model by any theoretical or practical constraints. The purpose of this note is to consider a generalized family of dynamic eddy viscosity models that do not necessarily rely on the local equilibrium assumption built into the Smagorinsky model. By invoking an inertial range assumption, it will be shown that the coefficients in the new models need not be nondimensional. This additional degree of freedom allows the use of models that are scaled on traditionally unknown quantities such as the dissipation rate. In certain cases, the dynamic models with dimensional coefficients are simpler to implement, and allow for a 30% reduction in the number of required filtering operations.

  5. Expressing Communicative Intents in Estonian, Finnish, and Swedish Mother-Adolescent Interactions

    ERIC Educational Resources Information Center

    Tulviste, Tiia; Mizera, Luule; De Geer, Boel

    2004-01-01

    The present article focused on two types of communicative intent (directing behaviour vs. eliciting talk) expressed by mothers and teenagers during everyday family interactions in Estonian, Finnish, and Swedish mono- and bicultural families. Three monocultural groups consisted of 17 Estonian, 19 Swedish, and 18 Finnish families living in their…

  6. Broad scan linkage analysis in a large Tourette family pedigree

    SciTech Connect

    Peiffer, A.; Leppert, M.; Wetering, B.J.M. van der

    1994-09-01

    Attempts to find a gene causing Tourette syndrome (TS) using linkage analysis have been unsuccessful even though as much as 65% of the autosomal genetic map has been excluded by the pooled results from several laboratories collaborating worldwide. One reason for this failure may be the misclassification of affection status of marry-in spouses. Specifically, we have found that six unrelated spouses in our Utah TS pedigree suffer from TS, obsessive-compulsive disorder or chronic motor tics. In light of these findings we decided to conduct a complete genomic scan from this Utah kindred with polymorphic markers in three related sibships in which there was no assortative mating. A linkage study assuming autosomal dominant inheritance was done using tetranucleotide repeat markers developed at the University of Utah. We selected markers that were less than 300 bp in size and that gave a heterozygosity of over 70% upon analysis in 4 CEPH families. Results to date with 95 markers run at an interval of 30 cM (covering 61% of the genome) show no evidence of linkage. We intend to extend the coverage to 100% of the genome. Pending completion of this scan, failure to provide evidence of linkage in our TS pedigree might then be attributed to phenotypic misclassification or erroneous assumptions regarding the genetic model of transmission.

  7. FamAgg: an R package to evaluate familial aggregation of traits in large pedigrees

    PubMed Central

    Rainer, Johannes; Taliun, Daniel; D’Elia, Yuri; Pattaro, Cristian; Domingues, Francisco S.; Weichenberger, Christian X.

    2016-01-01

    Summary: Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex phenotypes in very large pedigrees. Such pedigrees can be utilized to calculate measures that express trait aggregation on both the family and individual level, providing valuable directions in choosing families for detailed follow-up studies. We developed FamAgg, an open source R package that contains both established and novel methods to investigate familial aggregation of traits in large pedigrees. We demonstrate its use and interpretation by analyzing a publicly available cancer dataset with more than 20 000 participants distributed across approximately 400 families. Availability and implementation: The FamAgg package is freely available at the Bioconductor repository, http://www.bioconductor.org/packages/FamAgg. Contact: Christian.Weichenberger@eurac.edu Supplementary information: Supplementary data are available at Bioinformatics online. PMID:26803158

  8. Malaysia: where big is still better. For Malays, large families are part of the plan.

    PubMed

    1993-11-01

    The benefits of various-sized families in Malaysia were discussed by several women and supplemented with official statements on family planning (FP). The Director of the National Population and Family Development, Dr. Raj Karim, advised that maternal health is jeopardized when women have more than five children. About 30% of reproductive age women in Malaysia have five or more children. A Federation of FP Associations spokesperson agreed that women should be advised of the dangers of bearing over five children, of the importance of spacing births two to four years apart, and of the ideal age of childbearing (21-39 years). The government lacks an official policy on family size. The government position is, however, compatible with Islamic teachings on spacing in order to protect the health of the mother and child. Islamic law does not permit sterilization or abortion. The "fatwas" of Islamic teaching may have been misconstrued by those not using any form of contraception. Dr. Karim, who has five children, reported that having a large family can be difficult for a woman with a job, a career, and a husband or when both parents work. Most Malays desire large families. The average Malay family size was 4.1 children in 1990; Malaysian Chinese have fertility of 2.3 children and Malaysian Indians have 2.6 children. People say that the benefits outweigh the hardships of a large family. PMID:12287219

  9. A large family of anti-activators accompanying XylS/AraC family regulatory proteins.

    PubMed

    Santiago, Araceli E; Yan, Michael B; Tran, Minh; Wright, Nathan; Luzader, Deborah H; Kendall, Melissa M; Ruiz-Perez, Fernando; Nataro, James P

    2016-07-01

    AraC Negative Regulators (ANR) suppress virulence genes by directly down-regulating AraC/XylS members in Gram-negative bacteria. In this study, we sought to investigate the distribution and molecular mechanisms of regulatory function for ANRs among different bacterial pathogens. We identified more than 200 ANRs distributed in diverse clinically important gram negative pathogens, including Vibrio spp., Salmonella spp., Shigella spp., Yersinia spp., Citrobacter spp., enterotoxigenic (ETEC) and enteroaggregative E. coli (EAEC), and members of the Pasteurellaceae. By employing a bacterial two hybrid system, pull down assays and surface plasmon resonance (SPR) analysis, we demonstrate that Aar (AggR-activated regulator), a prototype member of the ANR family in EAEC, binds with high affinity to the central linker domain of AraC-like member AggR. ANR-AggR binding disrupted AggR dimerization and prevented AggR-DNA binding. ANR homologs of Vibrio cholerae, Citrobacter rodentium, Salmonella enterica and ETEC were capable of complementing Aar activity by repressing aggR expression in EAEC strain 042. ANR homologs of ETEC and Vibrio cholerae bound to AggR as well as to other members of the AraC family, including Rns and ToxT. The predicted proteins of all ANR members exhibit three highly conserved predicted α-helices. Site-directed mutagenesis studies suggest that at least predicted α-helices 2 and 3 are required for Aar activity. In sum, our data strongly suggest that members of the novel ANR family act by directly binding to their cognate AraC partners. PMID:27038276

  10. Models of population-based analyses for data collected from large extended families

    PubMed Central

    Lee, Elisa T.; Howard, Barbara V.; Fabsitz, Richard R.; Devereux, Richard B.; MacCluer, Jean W.; Laston, Sandra; Comuzzie, Anthony G.; Shara, Nawar M.; Welty, Thomas K.

    2014-01-01

    Large studies of extended families usually collect valuable phenotypic data that may have scientific value for purposes other than testing genetic hypotheses if the families were not selected in a biased manner. These purposes include assessing population-based associations of diseases with risk factors/covariates and estimating population characteristics such as disease prevalence and incidence. Relatedness among participants however, violates the traditional assumption of independent observations in these classic analyses. The commonly used adjustment method for relatedness in population-based analyses is to use marginal models, in which clusters (families) are assumed to be independent (unrelated) with a simple and identical covariance (family) structure such as those called independent, exchangeable and unstructured covariance structures. However, using these simple covariance structures may not be optimally appropriate for outcomes collected from large extended families, and may under- or over-estimate the variances of estimators and thus lead to uncertainty in inferences. Moreover, the assumption that families are unrelated with an identical family structure in a marginal model may not be satisfied for family studies with large extended families. The aim of this paper is to propose models incorporating marginal models approaches with a covariance structure for assessing population-based associations of diseases with their risk factors/covariates and estimating population characteristics for epidemiological studies while adjusting for the complicated relatedness among outcomes (continuous/categorical, normally/non-normally distributed) collected from large extended families. We also discuss theoretical issues of the proposed models and show that the proposed models and covariance structure are appropriate for and capable of achieving the aim. PMID:20882324

  11. Risk of Gastrointestinal Cancers among Patients with Appendectomy: A Large-Scale Swedish Register-Based Cohort Study during 1970-2009

    PubMed Central

    Song, Huan; Abnet, Christian C.; Andrén-Sandberg, Åke; Chaturvedi, Anil K.; Ye, Weimin

    2016-01-01

    Background Removal of the appendix might induce physiological changes in the gastrointestinal tract, and subsequently play a role in carcinogenesis. Therefore, we conducted a nationwide register-based cohort study in Sweden to investigate whether appendectomy is associated with altered risks of gastrointestinal cancers. Methods A population-based cohort study was conducted using the Swedish national registries, including 480,382 eligible patients followed during the period of 1970–2009 for the occurrence of site-specific gastrointestinal cancer (esophageal/gastric/colon/rectal cancer). Outcome and censoring information was collected by linkage to health and demography registers. We examined the incidence of appendectomy in Sweden using data from 1987–2009. We also calculated standardized incidence ratios (SIRs) with 95% confidence intervals (CIs) to estimate the relative gastrointestinal cancer risk through comparison to the general population. Results We noted an overall decrease in the age-standardized incidence of appendectomy among the entire Swedish population from 189.3 to 105.6 per 100,000 individuals between 1987 and 2009. Grouped by different discharge diagnosis, acute appendicitis, incidental appendectomy, and entirely negative appendectomy continuously decreased over the study period, while the perforation ratio (18%–23%) stayed relatively constant. Compared to the general population, no excess cancer risk was observed for gastrointestinal cancers under study with the exception of a marginally elevated risk for esophageal adenocarcinoma (SIR 1.32, 95% CI 1.09–1.58). Conclusions In Sweden, the incidence of appendectomy and acute appendicitis has decreased during 1987–2009. No excess gastrointestinal cancer risks were observed among these appendectomized patients, with the possible exception of esophageal adenocarcinoma. PMID:26959234

  12. Structure and evolutionary history of a large family of NLR proteins in the zebrafish.

    PubMed

    Howe, Kerstin; Schiffer, Philipp H; Zielinski, Julia; Wiehe, Thomas; Laird, Gavin K; Marioni, John C; Soylemez, Onuralp; Kondrashov, Fyodor; Leptin, Maria

    2016-04-01

    Multicellular eukaryotes have evolved a range of mechanisms for immune recognition. A widespread family involved in innate immunity are the NACHT-domain and leucine-rich-repeat-containing (NLR) proteins. Mammals have small numbers of NLR proteins, whereas in some species, mostly those without adaptive immune systems, NLRs have expanded into very large families. We describe a family of nearly 400 NLR proteins encoded in the zebrafish genome. The proteins share a defining overall structure, which arose in fishes after a fusion of the core NLR domains with a B30.2 domain, but can be subdivided into four groups based on their NACHT domains. Gene conversion acting differentially on the NACHT and B30.2 domains has shaped the family and created the groups. Evidence of positive selection in the B30.2 domain indicates that this domain rather than the leucine-rich repeats acts as the pathogen recognition module. In an unusual chromosomal organization, the majority of the genes are located on one chromosome arm, interspersed with other large multigene families, including a new family encoding zinc-finger proteins. The NLR-B30.2 proteins represent a new family with diversity in the specific recognition module that is present in fishes in spite of the parallel existence of an adaptive immune system. PMID:27248802

  13. Structure and evolutionary history of a large family of NLR proteins in the zebrafish

    PubMed Central

    Zielinski, Julia; Kondrashov, Fyodor

    2016-01-01

    Multicellular eukaryotes have evolved a range of mechanisms for immune recognition. A widespread family involved in innate immunity are the NACHT-domain and leucine-rich-repeat-containing (NLR) proteins. Mammals have small numbers of NLR proteins, whereas in some species, mostly those without adaptive immune systems, NLRs have expanded into very large families. We describe a family of nearly 400 NLR proteins encoded in the zebrafish genome. The proteins share a defining overall structure, which arose in fishes after a fusion of the core NLR domains with a B30.2 domain, but can be subdivided into four groups based on their NACHT domains. Gene conversion acting differentially on the NACHT and B30.2 domains has shaped the family and created the groups. Evidence of positive selection in the B30.2 domain indicates that this domain rather than the leucine-rich repeats acts as the pathogen recognition module. In an unusual chromosomal organization, the majority of the genes are located on one chromosome arm, interspersed with other large multigene families, including a new family encoding zinc-finger proteins. The NLR-B30.2 proteins represent a new family with diversity in the specific recognition module that is present in fishes in spite of the parallel existence of an adaptive immune system. PMID:27248802

  14. Evidence for ASD recurrence rates and reproductive stoppage from large UK ASD research family databases.

    PubMed

    Wood, Claire L; Warnell, Frances; Johnson, Mary; Hames, Annette; Pearce, Mark S; McConachie, Helen; Parr, Jeremy R

    2015-02-01

    Following a diagnosis of a developmental disorder such as autism spectrum disorder (ASD) in early childhood, parents may decide to have fewer children than previously planned. The tendency for families to halt reproduction after receiving a diagnosis for one child is known as reproductive stoppage. Stoppage may lead to an underestimate of recurrence risk estimates of parents having more than one child with ASD. Using two large UK ASD family databases, we investigated recurrence rates for ASD and evidence for reproductive stoppage for both ASD and undiagnosed ASD/broader autism phenotype in a subgroup of families. Reproductive stoppage was tested for using the Mann-Whitney U-test to disprove the null hypothesis that affected and nonaffected children were distributed randomly by birth order. Dahlberg's later-sib method was used to estimate recurrence risk and take stoppage into account. Data were available from 299 families (660 children) including 327 with ASD. Ten percent of the complete families had more than one child with an ASD. Using Dahlberg's later-sib method, the recurrence risk for ASD was 24.7% overall and 50.0% in families with two or more older siblings with ASD. Children with ASD were born significantly later in families than those without ASD in all sibship combinations. This study shows strong evidence that ASD is associated with reproductive stoppage. These data have important implications for family planning and genetic counseling. PMID:25273900

  15. Ultra Large Gene Families: A Matter of Adaptation or Genomic Parasites?

    PubMed

    Schiffer, Philipp H; Gravemeyer, Jan; Rauscher, Martina; Wiehe, Thomas

    2016-01-01

    Gene duplication is an important mechanism of molecular evolution. It offers a fast track to modification, diversification, redundancy or rescue of gene function. However, duplication may also be neutral or (slightly) deleterious, and often ends in pseudo-geneisation. Here, we investigate the phylogenetic distribution of ultra large gene families on long and short evolutionary time scales. In particular, we focus on a family of NACHT-domain and leucine-rich-repeat-containing (NLR)-genes, which we previously found in large numbers to occupy one chromosome arm of the zebrafish genome. We were interested to see whether such a tight clustering is characteristic for ultra large gene families. Our data reconfirm that most gene family inflations are lineage-specific, but we can only identify very few gene clusters. Based on our observations we hypothesise that, beyond a certain size threshold, ultra large gene families continue to proliferate in a mechanism we term "run-away evolution". This process might ultimately lead to the failure of genomic integrity and drive species to extinction. PMID:27509525

  16. Attention Interchanges at Story-Time: A Case Study from a Deaf and Hearing Twin Pair Acquiring Swedish Sign Language in Their Deaf Family

    ERIC Educational Resources Information Center

    Cramer-Wolrath, Emelie

    2012-01-01

    This case study longitudinally analyzes and describes the changes of attentional expressions in interchanges between a pair of fraternal twins, 1 deaf and 1 hearing, from the age of 10-40 months, and their Deaf family members. The video-observed attentional expressions of initiating and reestablishing interchange were grouped in 5 functional…

  17. Swedish Successful Schools Revisited

    ERIC Educational Resources Information Center

    Hoog, Jonas; Johansson, Olof; Olofsson, Anders

    2009-01-01

    Purpose: The purpose of this paper is to describe the results of a follow-up study of two Swedish schools in which, five years previously, the principals had been successful leaders. Had this success been maintained? Design/methodology/approach: Two schools were revisited to enable the authors to interview principals and teachers as well as…

  18. Association between neighbourhood air pollution concentrations and dispensed medication for psychiatric disorders in a large longitudinal cohort of Swedish children and adolescents

    PubMed Central

    Bråbäck, Lennart; Åström, Daniel Oudin; Strömgren, Magnus; Forsberg, Bertil

    2016-01-01

    Objective To investigate associations between exposure to air pollution and child and adolescent mental health. Design Observational study. Setting Swedish National Register data on dispensed medications for a broad range of psychiatric disorders, including sedative medications, sleeping pills and antipsychotic medications, together with socioeconomic and demographic data and a national land use regression model for air pollution concentrations for NO2, PM10 and PM2.5. Participants The entire population under 18 years of age in 4 major counties. We excluded cohort members whose parents had dispensed a medication in the same medication group since the start date of the register. The cohort size was 552 221. Main outcome measures Cox proportional hazards models to estimate HRs and their 95% CIs for the outcomes, adjusted for individual-level and group-level characteristics. Results The average length of follow-up was 3.5 years, with an average number of events per 1000 cohort members of ∼21. The mean annual level of NO2 was 9.8 µg/m3. Children and adolescents living in areas with higher air pollution concentrations were more likely to have a dispensed medication for a psychiatric disorder during follow-up (HR=1.09, 95% CI 1.06 to 1.12, associated with a 10 µg/m3 increase in NO2). The association with NO2 was clearly present in 3 out of 4 counties in the study area; however, no statistically significant heterogeneity was detected. Conclusion There may be a link between exposure to air pollution and dispensed medications for certain psychiatric disorders in children and adolescents even at the relatively low levels of air pollution in the study regions. The findings should be corroborated by others. PMID:27259522

  19. Genetic heterogeneity in psoriasis vulgaris based on linkage analyses of a large family material

    SciTech Connect

    Wahlstroem, J.; Swanbeck, G.; Inerot, A.

    1994-09-01

    Information on psoriasis among parents and siblings in 14,008 families has been collected. On the basis of this material, evidence for monogenetic autosomal recessive inheritance of psoriasis has recently been presented. Indications from more than one type of non-pustular psoriasis has been obtained from the population genetic data. Molecular genetic linkage analysis of psoriasis to a number of polymorphic genetic markers for a large number of families has been made. It is apparent that there is genetic heterogeneity in a psoriasis population with regard to psoriasis genes. Using the computer program Linkage 5.0 and a formula for heterogeneity, a lodscore over 3.0 for one locus has been obtained. This locus has further been confirmed by several other markers in the vicinity. The locus found is linked to slightly over half of the families, indicating that there are more genetically independent types of psoriasis. The age at onset of those families that are apparently linked to this locus have a slightly higher age at onset than those not linked to that locus but with a considerable overlap. In spite of close coverage of the whole chromosomes number 6 and 17, no linkage has been found in this regions. This indicates that neither the HLA region nor the region earlier found to be involved in one family with psoriasis are primarily involved in our families.

  20. Evaluating the feasibility of using candidate DNA barcodes in discriminating species of the large Asteraceae family

    PubMed Central

    2010-01-01

    Background Five DNA regions, namely, rbcL, matK, ITS, ITS2, and psbA-trnH, have been recommended as primary DNA barcodes for plants. Studies evaluating these regions for species identification in the large plant taxon, which includes a large number of closely related species, have rarely been reported. Results The feasibility of using the five proposed DNA regions was tested for discriminating plant species within Asteraceae, the largest family of flowering plants. Among these markers, ITS2 was the most useful in terms of universality, sequence variation, and identification capability in the Asteraceae family. The species discriminating power of ITS2 was also explored in a large pool of 3,490 Asteraceae sequences that represent 2,315 species belonging to 494 different genera. The result shows that ITS2 correctly identified 76.4% and 97.4% of plant samples at the species and genus levels, respectively. In addition, ITS2 displayed a variable ability to discriminate related species within different genera. Conclusions ITS2 is the best DNA barcode for the Asteraceae family. This approach significantly broadens the application of DNA barcoding to resolve classification problems in the family Asteraceae at the genera and species levels. PMID:20977734

  1. Large mesenteric gastrointestinal stromal tumor in a patient with familial adenomatous polyposis syndrome.

    PubMed

    Moschos, John; Tzilves, Dimitrios; Paikos, Dimitrios; Tagarakis, Georgios; Pilpilidis, Ioannis; Antonopoulos, Zissis; Kadis, Savvas; Katsos, Ioannis; Tarpagos, Anestis

    2006-06-01

    We report a case of a 30-year-old man who presented with severe debilitation, anemia and diarrhea over two months. Colonoscopy revealed many (>100) polyps (familial adenomatous polyposis syndrome). Abdominal CT scan showed a large mass at the left upper abdomen in conjunction with the splenic flexure. Total colectomy with mesenteric mass and adjacent small bowel removal and ileoanal pouch was performed. Examination of the resected mesenteric mass showed a gastrointestinal stromal tumor (GIST) with scarce mitosis and infiltration of the adjacent small bowel. We describe for the first time in medical literature the coexistence of familial adenomatous polyposis syndrome and GIST in a 30-year-old man. PMID:16855925

  2. Prevalence and prognostic impact of chronic kidney disease in STEMI from a gender perspective: data from the SWEDEHEART register, a large Swedish prospective cohort

    PubMed Central

    Sederholm Lawesson, Sofia; Alfredsson, Joakim; Szummer, Karolina; Fredrikson, Mats; Swahn, Eva

    2015-01-01

    Objectives Gender differences in prevalence and prognostic impact of chronic kidney disease (CKD) in ST segment elevation myocardial infarction (STEMI) have been poorly evaluated. In STEMI, female gender has been independently associated with an increased risk of mortality. CKD has been found to be an important prognostic marker in myocardial infarction. The aim of this study was to evaluate gender differences in prevalence and prognostic impact of CKD on short-term and long-term mortality. Design Prospective observational cohort study. Setting The national quality register SWEDEHEART was used. In the beginning of the study period, 94% of the Swedish coronary care units contributed data to the register, which subsequently increased to 100%. The glomerular filtration rate was estimated (eGFR) according to Modification of Diet in Renal Disease Study (MDRD) and Cockcroft-Gault (CG). Participants All patients with STEMI registered in SWEDEHEART from the years 2003–2009 were included (37 991 patients, 66% men). Main results Women had 1.6 (MDRD) to 2.2 (CG) times higher multivariable adjusted risk of CKD. Half of the women had CKD according to CG. CKD was associated with 2–2.5 times higher risk of in-hospital mortality and approximately 1.5 times higher risk of long-term mortality in both genders. Each 10 mL/min decline of eGFR was associated with an increased risk of in-hospital and long-term mortality (22–33% and 9–16%, respectively) and this did not vary significantly by gender. Both in-hospital and long-term mortality were doubled in women. After multivariable adjustment including eGFR, there was no longer any gender difference in early outcome and the long-term outcome was better in women. Conclusions Among patients with STEMI, female gender was independently associated with CKD. Reduced eGFR was a strong independent risk factor for short-term and long-term mortality without a significant gender difference in prognostic impact and seems to be an

  3. Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.

    PubMed

    Yu, Xinping; Shi, Wei; Cheng, Lulu; Wang, Yanfang; Chen, Ding; Hu, Xuting; Xu, Jinling; Xu, Limin; Wu, Yaming; Qu, Jia; Gu, Feng

    2016-01-01

    Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with 14 affected individuals. By capturing next-generation sequencing (CNGS) of 144 genes associated with retinal diseases, we identified eight novel DNA variants; however, none of them cosegregated for all the members of the family. Further analysis of the CNGS data led to identification of a recurrent missense mutation (c.403C > T, p.R135W) in the rhodopsin (RHO) gene, which cosegregated with all affected individuals in the family and was not observed in any of the unaffected family members. The p.R135W mutation has a reference single nucleotide polymorphism (SNP) ID (rs104893775), and it appears to be responsible for the disease in this large family. This study highlights the importance of examining NGS data with reference SNP IDs. Thus, our study is important for data analysis of NGS-based clinical genetic diagnoses. PMID:26794436

  4. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

    SciTech Connect

    Edwards, M.J.; Roberts, J.; Partington, M.W.; Colley, P.W.; Hollway, G.E.; Kozman, H.M.; Mulley, J.C.

    1994-10-15

    Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible. 25 refs., 6 figs., 2 tabs.

  5. A large multigene family codes for the polypeptides of the crystalline trichocyst matrix in Paramecium.

    PubMed Central

    Madeddu, L; Gautier, M C; Vayssié, L; Houari, A; Sperling, L

    1995-01-01

    The secretory granules (trichocysts) of Paramecium are characterized by a highly constrained shape that reflects the crystalline organization of their protein contents. Yet the crystalline trichocyst content is composed not of a single protein but of a family of related polypeptides that derive from a family of precursors by protein processing. In this paper we show that a multigene family, of unusually large size for a unicellular organism, codes for these proteins. The family is organized in subfamilies; each subfamily codes for proteins with different primary structures, but within the subfamilies several genes code for nearly identical proteins. For one subfamily, we have obtained direct evidence that the different members are coexpressed. The three subfamilies we have characterized are located on different macronuclear chromosomes. Typical 23-29 nucleotide Paramecium introns are found in one of the regions studied and the intron sequences are more variable than the surrounding coding sequences, providing gene-specific markers. We suggest that this multigene family may have evolved to assure a microheterogeneity of structural proteins necessary for morphogenesis of a complex secretory granule core with a constrained shape and dynamic properties: genetic analysis has shown that correct assembly of the crystalline core is necessary for trichocyst function. Images PMID:7579685

  6. Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa

    PubMed Central

    Yu, Xinping; Shi, Wei; Cheng, Lulu; Wang, Yanfang; Chen, Ding; Hu, Xuting; Xu, Jinling; Xu, Limin; Wu, Yaming; Qu, Jia; Gu, Feng

    2016-01-01

    Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with 14 affected individuals. By capturing next-generation sequencing (CNGS) of 144 genes associated with retinal diseases, we identified eight novel DNA variants; however, none of them cosegregated for all the members of the family. Further analysis of the CNGS data led to identification of a recurrent missense mutation (c.403C > T, p.R135W) in the rhodopsin (RHO) gene, which cosegregated with all affected individuals in the family and was not observed in any of the unaffected family members. The p.R135W mutation has a reference single nucleotide polymorphism (SNP) ID (rs104893775), and it appears to be responsible for the disease in this large family. This study highlights the importance of examining NGS data with reference SNP IDs. Thus, our study is important for data analysis of NGS-based clinical genetic diagnoses. PMID:26794436

  7. Genome-scale phylogenetic function annotation of large and diverse protein families

    PubMed Central

    Engelhardt, Barbara E.; Jordan, Michael I.; Srouji, John R.; Brenner, Steven E.

    2011-01-01

    The Statistical Inference of Function Through Evolutionary Relationships (SIFTER) framework uses a statistical graphical model that applies phylogenetic principles to automate precise protein function prediction. Here we present a revised approach (SIFTER version 2.0) that enables annotations on a genomic scale. SIFTER 2.0 produces equivalently precise predictions compared to the earlier version on a carefully studied family and on a collection of 100 protein families. We have added an approximation method to SIFTER 2.0 and show a 500-fold improvement in speed with minimal impact on prediction results in the functionally diverse sulfotransferase protein family. On the Nudix protein family, previously inaccessible to the SIFTER framework because of the 66 possible molecular functions, SIFTER achieved 47.4% accuracy on experimental data (where BLAST achieved 34.0%). Finally, we used SIFTER to annotate all of the Schizosaccharomyces pombe proteins with experimental functional characterizations, based on annotations from proteins in 46 fungal genomes. SIFTER precisely predicted molecular function for 45.5% of the characterized proteins in this genome, as compared with four current function prediction methods that precisely predicted function for 62.6%, 30.6%, 6.0%, and 5.7% of these proteins. We use both precision-recall curves and ROC analyses to compare these genome-scale predictions across the different methods and to assess performance on different types of applications. SIFTER 2.0 is capable of predicting protein molecular function for large and functionally diverse protein families using an approximate statistical model, enabling phylogenetics-based protein function prediction for genome-wide analyses. The code for SIFTER and protein family data are available at http://sifter.berkeley.edu. PMID:21784873

  8. Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family.

    PubMed

    Allen, K R; Whatley, S D; Degg, T J; Barth, J H

    2005-01-01

    Hereditary coproporphyria (HCP) is the least common of the three autosomal dominant acute porphyrias. To compare the sensitivity of metabolite measurements for the identification of asymptomatic HCP, we carried out a molecular and biochemical investigation of a large family in which HCP is caused by a previously unreported frameshift mutation (c.119delA). Thirteen of 19 asymptomatic family members, aged 10-72 years, were shown by mutational analysis to have HCP. The faecal coproporphyrin isomer III:I ratio was increased in all of these 13 family members; faecal total porphyrin concentration and urinary porphyrin excretion were increased in 11 and 8 of them, respectively. Plasma porphyrin concentrations were marginally increased in three individuals and plasma fluorescence emission scanning showed a porphyrin peak at 618 nm in two of these. Our results add to the evidence that an increased faecal porphyrin coproporphyrin III:I ratio is a highly sensitive test for the detection of clinically latent HCP in individuals over the age of 10 years; its sensitivity below this age remains uncertain. They also show that plasma fluorescence emission scanning is not useful for the investigation of families with HCP. PMID:16151909

  9. Towards identification of an epilepsy gene in a large family with idiopathic generalized epilepsy

    SciTech Connect

    Roussear, M.; Lopes-Cendes, I.; Berkovic, S.F.

    1994-09-01

    To identify the disease gene in a large, multiplex family segregating an autosomal dominant form of idiopathic generalized epilepsy (IGE). The IGEs have been recognized for several decades as being genetically determined. However, large pedigrees with a clear Mendelian inheritance are not commonly available. This, and the presence of locus heterogeneity have been obstacles to the identification of linkage in several IGE syndromes. We have identified a large IGE kindred with fifty-eight living individuals, including 26 affecteds, showing a clear autosomal dominant inheritance with incomplete penetrance. Forty-fur informative individuals, including 23 affecteds, were selected for the linkage studies. We have chosen 200 polymorphic microsatellite markers, about 20 cM apart, throughout the human autosomes as a genome-search linkage strategy. To date, 47 markers, representing 30% of the human genome, have been excluded for linkage in the Australian kindred. As our study progresses, we will report up-to-date results.

  10. UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family

    PubMed Central

    2013-01-01

    Background The primary objective of this study is to identify novel copy number variations (CNVs) associated with familial ankylosing spondylitis (AS). A customized genome-wide microarray was designed to detect CNVs and applied to a multiplex AS family with six (6) affected family members. CNVs were detected using the built-in DNA analytics aberration detection method-2 (ADM-2) algorithm. Gene enrichment analysis was performed to observe the segregation. Subsequent validation was performed using real time quantitative fluorescence polymerase reaction (QF-PCR). The frequency of copy number variation for the UGT2B17 gene was then performed on two well-defined AS cohorts. Fisher exact test was performed to quantify the association. Results Our family-based analysis revealed ten gene-enriched CNVs that segregate with all six family members affected with AS. Based on the proposed function and the polymorphic nature of the UGT2B17 gene, the UGT2B17 gene CNV was selected for validation using real time QF-PCR with full concordance. The frequency of two copies of the UGT2B17 gene CNV was 0.41 in the Newfoundland AS cases and 0.35 in the Newfoundland controls (OR = 1.26(0.99-1.59); p < 0.05)), whereas the frequency of two (2) copies of the UGT2B17 gene CNV was 0.40 in the Alberta AS cases and 0.39 in the Alberta controls (OR = 1.05(95% CI: 0.83-1.33); p < 0.71)). Conclusions A genome-wide microarray interrogation of a large multiplex AS family revealed segregation of the UGT2B17 gene CNV among all affected family members. The association of the UGT2B17 CNV with AS is particularly interesting given the recent association of this CNV with osteoporosis and the proposed function as it encodes a key enzyme that inhibits androgens. However, two copies of the UGT2B17 gene CNV were only marginally significant in a uniplex AS cohort from Newfoundland but not in a uniplex AS cohort from Alberta. PMID:23927372

  11. Environmental Management at Swedish Universities

    ERIC Educational Resources Information Center

    Arvidsson, Karin

    2004-01-01

    Since 1996, all Swedish public authorities, which includes most universities, have been made responsible for contributing to the sustainable development of the society. Swedish universities are thus required to submit annual environmental reports about their policies, structures and actions. This study provides a review of the activities that…

  12. Electron counting and a large family of two-dimensional semiconductors

    NASA Astrophysics Data System (ADS)

    Miao, Maosheng; Botana, Jorge; Zurek, Eva; Liu, Jingyao; Yang, Wen

    Two-dimensional semiconductors (2DSC) are currently the focus of many studies, thanks to their novel and superior transport properties that may greatly influence future electronic devices. The potential applications of 2DSCs range from low-dimensional electronics, topological insulators and vallytronics all the way to novel photolysis. However, compared with the conventional semiconductors that are comprised of main group elements and cover a large range of band gaps and lattice constants, the choice of 2D materials is very limited. In this work, we propose and demonstrate a large family of 2DSCs, all adopting the same structure and consisting of only main group elements. Using advanced density functional calculations, we demonstrate the attainability of these materials, and show that they cover a large range of lattice constants, band gaps and band edge states, making them good candidate materials for heterojunctions. This family of two dimensional materials may be instrumental in the fabrication of 2DSC devices that may rival the currently employed 3D semiconductors.

  13. Penetrance and clinical consequences of a gross SDHB deletion in a large family.

    PubMed

    Solis, D C; Burnichon, N; Timmers, H J L M; Raygada, M J; Kozupa, A; Merino, M J; Makey, D; Adams, K T; Venisse, A; Gimenez-Roqueplo, A-P; Pacak, K

    2009-04-01

    Mutations in the gene encoding subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) are inherited in an autosomal dominant manner and are associated with hereditary paraganglioma (PGL) and pheochromocytoma. The phenotype of patients with SDHB point mutations has been previously described. However, the phenotype and penetrance of gross SDHB deletions have not been well characterized as they are rarely described. The objective was to describe the phenotype and estimate the penetrance of an exon 1 large SDHB deletion in one kindred. A retrospective and prospective study of 41 relatives across five generations was carried out. The main outcome measures were genetic testing, clinical presentations, plasma catecholamines and their O-methylated metabolites. Of the 41 mutation carriers identified, 11 were diagnosed with PGL, 12 were found to be healthy carriers after evaluation, and 18 were reportedly healthy based on family history accounts. The penetrance of PGL related to the exon 1 large SDHB deletion in this family was estimated to be 35% by age 40. Variable expressivity of the phenotype associated with a large exon 1 SDHB deletion was observed, including low penetrance, diverse primary PGL tumor locations, and malignant potential. PMID:19389109

  14. Penetrance and clinical consequences of a gross SDHB deletion in a large family

    PubMed Central

    Solis, DC; Burnichon, N; Timmers, HJLM; Raygada, MJ; Kozupa, A; Merino, MJ; Makey, D; Adams, KT; Venisse, A; Gimenez-Roqueplo, A-P; Pacak, K

    2016-01-01

    Mutations in the gene encoding subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) are inherited in an autosomal dominant manner and are associated with hereditary paraganglioma (PGL) and pheochromocytoma. The phenotype of patients with SDHB point mutations has been previously described. However, the phenotype and penetrance of gross SDHB deletions have not been well characterized as they are rarely described. The objective was to describe the phenotype and estimate the penetrance of an exon 1 large SDHB deletion in one kindred. A retrospective and prospective study of 41 relatives across five generations was carried out. The main outcome measures were genetic testing, clinical presentations, plasma catecholamines and their O-methylated metabolites. Of the 41 mutation carriers identified, 11 were diagnosed with PGL, 12 were found to be healthy carriers after evaluation, and 18 were reportedly healthy based on family history accounts. The penetrance of PGL related to the exon 1 large SDHB deletion in this family was estimated to be 35% by age 40. Variable expressivity of the phenotype associated with a large exon 1 SDHB deletion was observed, including low penetrance, diverse primary PGL tumor locations, and malignant potential. PMID:19389109

  15. A Novel SIX3 Mutation Segregates With Holoprosencephaly in a Large Family

    PubMed Central

    Solomon, Benjamin D.; Lacbawan, Felicitas; Jain, Mahim; Domené, Sabina; Roessler, Erich; Moore, Cynthia; Dobyns, William B.; Muenke, Maximilian

    2009-01-01

    Holoprosencephaly is the most common structural malformation of the forebrain in humans and has a complex etiology including chromosomal aberrations, single gene mutations and environmental components. Here we present the pertinent clinical findings among members of an unusually large kindred ascertained over 15 years ago following the evaluation and subsequent genetic work-up of a female infant with congenital anomalies. A genome-wide scan and linkage analysis showed only suggestive evidence of linkage to markers on chromosome 2 among the most likely of several pedigree interpretations. We now report that a novel missense mutation in the SIX3 holoprosencephaly gene is the likely cause in this family. Molecular genetic analysis and/or clinical characterization now show that at least 15 members of this family are presumed SIX3 mutation gene carriers, with clinical manifestations ranging from phenotypically normal adults (non-penetrance) to alobar holoprosencephaly incompatible with postnatal life. This particular family represents a seminal example of the variable manifestations of gene mutations in holoprosencephaly and difficulties encountered in their elucidation. PMID:19353631

  16. Injuries in Swedish skydiving

    PubMed Central

    Westman, Anton; Björnstig, Ulf

    2007-01-01

    Objective To create a basis for prevention of modern skydiving injuries. Design Descriptive epidemiological study. Setting National total material. Patients Data on all reported injury events (n = 257) in Swedish skydiving 1999–2003 (total 539 885 jumps) were retrieved from the Swedish Parachute Association. Non‐fatally injured skydivers were sent a questionnaire asking for event and injury details (response rate 89%), and supplementary hospital records were retrieved for the most serious injuries (n = 85). Human, equipment and environmental factors were assessed for risk. Main Outcome Measurements Frequency and severity of injuries. Results Incidence of non‐fatal injury events was 48 per 100 000 jumps. The lower extremities, spine and shoulders were important regions of injury. The most serious injuries were experienced by licensed skydivers, but students in training had a higher injury rate and more often left the sport because of the injury. Of two student‐training systems, one had an incidence less than half that of the other. Conclusions A basis for prevention was created, showing a potential for reduction of frequency and severity of injuries with training and technical interventions. PMID:17224436

  17. The widening gap—a swedish perspective

    NASA Astrophysics Data System (ADS)

    Brandell, Gerd; Hemmi, Kirsti; Thunberg, Hans

    2008-09-01

    Transition problems from secondary to tertiary level in mathematics have been a recurrent issue in Sweden. This paper summarises the development during the last decades. Results from two recent research studies that illuminate the transition problem are presented. The first one, based on empirical data from a major Swedish technical university, characterises the widening gap, in content and in approach, between secondary school and first year university courses. The second study deals with students' encounters with mathematical proof and is based on a large investigation at another main Swedish university. We discuss the influence on the current transition problems of school reforms and of the great expansion of higher education in Sweden during the last 10 - 15 years in view of the results from the research studies.

  18. Population Landscape of Familial Cancer

    PubMed Central

    Frank, C.; Fallah, M.; Sundquist, J.; Hemminki, A.; Hemminki, K.

    2015-01-01

    Public perception and anxiety of familial cancer have increased demands for clinical counseling, which may be well equipped for gene testing but less prepared for counseling of the large domain of familial cancer with unknown genetic background. The aim of the present study was to highlight the full scope of familial cancer and the variable levels of risk that need to be considered. Data on the 25 most common cancers were obtained from the Swedish Family Cancer Database and a Poisson regression model was applied to estimate relative risks (RR) distinguishing between family histories of single or multiple affected first-degree relatives and their diagnostic ages. For all cancers, individual risks were significantly increased if a parent or a sibling had a concordant cancer. While the RRs were around 2.00 for most cancers, risks were up to 10-fold increased for some cancers. Familial risks were even higher when multiple relatives were affected. Although familial risks were highest at ages below 60 years, most familial cases were diagnosed at older ages. The results emphasized the value of a detailed family history as a readily available tool for individualized counseling and its preventive potential for a large domain of non-syndromatic familial cancers. PMID:26256549

  19. MTHFR homozygous mutation and additional risk factors for cerebral infarction in a large Italian family.

    PubMed

    Del Balzo, Francesca; Spalice, Alberto; Perla, Massimo; Properzi, Enrico; Iannetti, Paola

    2009-01-01

    Several cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. Given the large number of asymptomatic individuals with the MTHFR mutation, additional risk factors for cerebral infarction should be considered. This study describes a large family with the MTHFR mutation and a combination of heterozygous factor V Leiden mutations and different additional exogenous and endogenous thrombogenic risk factors. Psychomotor retardation and a left fronto-insular infarct associated with the MTHFR mutation together with diminished factor VII and low level of protein C was documented in the first patient. In the second patient, generalized epilepsy and a malacic area in the right nucleus lenticularis was associated with the MTHFR mutation and a low level of protein C. In the third patient, right hemiparesis and a left fronto-temporal porencephalic cyst were documented, together with the MTHFR mutation and hyperhomocysteinemia. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of infants with cerebral infarctions associated with the MTHFR mutation and of their related family members. PMID:19068258

  20. Signals of supersymmetry with inaccessible first two families at the Large Hadron Collider

    SciTech Connect

    Desai, Nishita; Mukhopadhyaya, Biswarup

    2009-09-01

    We investigate the signals of supersymmetry in a scenario where only the third family squarks and sleptons can be produced at the Large Hadron Collider, in addition to the gluino, charginos, and neutralinos. The final states in such cases are marked by a multiplicity of top or bottom quarks. We study, in particular, the case when the top squark, bottom squark, and gluino masses are near the TeV scale due to which, the final state t's and b's are very energetic. We point out the difficulty in b tagging and identifying energetic tops and suggest several event selection criteria which allow the signals to remain significantly above the standard model background. We show that such scenarios with gluino mass up to 2 TeV can be successfully probed at the Large Hadron Collider. Information on tan{beta} can also be obtained by looking at associated Higgs production in the cascades of accompanying neutralinos. We also show that a combined analysis of event rates in the different channels and the effective mass distribution allows one to differentiate this scenario from the one where all three sfermion families are accessible.

  1. Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

    PubMed

    Fernandes-Lima, Z S; Paixão-Côrtes, V R; Andrade, A K M de; Fernandes, A S; Coronado, B N L; Monte Filho, H P; Santos, M J; Omena Filho, R L de; Biondi, F C; Ruiz-Linares, A; Ramallo, V; Hünemeier, T; Schuler-Faccini, L; Monlleó, I L

    2015-01-01

    Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development. PMID:24266705

  2. A large and functionally diverse family of Fad2 genes in safflower (Carthamus tinctorius L.)

    PubMed Central

    2013-01-01

    Background The application and nutritional value of vegetable oil is highly dependent on its fatty acid composition, especially the relative proportion of its two major fatty acids, i.e oleic acid and linoleic acid. Microsomal oleoyl phosphatidylcholine desaturase encoded by FAD2 gene is known to introduce a double bond at the Δ12 position of an oleic acid on phosphatidylcholine and convert it to linoleic acid. The known plant FAD2 enzymes are encoded by small gene families consisting of 1-4 members. In addition to the classic oleate Δ12-desaturation activity, functional variants of FAD2 that are capable of undertaking additional or alternative acyl modifications have also been reported in a limited number of plant species. In this study, our objective was to identify FAD2 genes from safflower and analyse their differential expression profile and potentially diversified functionality. Results We report here the characterization and functional expression of an exceptionally large FAD2 gene family from safflower, and the temporal and spatial expression profiles of these genes as revealed through Real-Time quantitative PCR. The diversified functionalities of some of the safflower FAD2 gene family members were demonstrated by ectopic expression in yeast and transient expression in Nicotiana benthamiana leaves. CtFAD2-1 and CtFAD2-10 were demonstrated to be oleate desaturases specifically expressed in developing seeds and flower head, respectively, while CtFAD2-2 appears to have relatively low oleate desaturation activity throughout the plant. CtFAD2-5 and CtFAD2-8 are specifically expressed in root tissues, while CtFAD2-3, 4, 6, 7 are mostly expressed in the cotyledons and hypocotyls in young safflower seedlings. CtFAD2-9 was found to encode a novel desaturase operating on C16:1 substrate. CtFAD2-11 is a tri-functional enzyme able to introduce a carbon double bond in either cis or trans configuration, or a carbon triple (acetylenic) bond at the Δ12 position

  3. Protocol Design for Large-Scale Cross-Sectional Studies of Sexual Abuse and Associated Factors in Individual Sports: Feasibility Study in Swedish Athletics

    PubMed Central

    Timpka, Toomas; Janson, Staffan; Jacobsson, Jenny; Ekberg, Joakim; Dahlström, Örjan; Kowalski, Jan; Bargoria, Victor; Mountjoy, Margo; Svedin, Carl G.

    2015-01-01

    research protocol for cross-sectional epidemiological studies of sexual abuse in athletics was designed and its feasibility evaluated. The definition of sexual abuse, ethical soundness of the protocol, reference populations and study of co-morbidity, and means for athlete-level data collection were in requirements analyses identified as particularly complex design issues. The feasibility evaluation showed a high non-participation rate (61%), but also that the large majority of participants found the study important and that questions were answered truthfully. Responding that partaking in the study was not personally gratifying was associated with training more hours. When implementing cross-sectional epidemiological studies of sexual abuse in athletics, it is necessary to promote and facilitate athlete participation. PMID:25729306

  4. Protocol design for large-scale cross-sectional studies of sexual abuse and associated factors in individual sports: feasibility study in Swedish athletics.

    PubMed

    Timpka, Toomas; Janson, Staffan; Jacobsson, Jenny; Ekberg, Joakim; Dahlström, Örjan; Kowalski, Jan; Bargoria, Victor; Mountjoy, Margo; Svedin, Carl G

    2015-03-01

    A research protocol for cross-sectional epidemiological studies of sexual abuse in athletics was designed and its feasibility evaluated.The definition of sexual abuse, ethical soundness of the protocol, reference populations and study of co-morbidity, and means for athlete-level data collection were in requirements analyses identified as particularly complex design issues.The feasibility evaluation showed a high non-participation rate (61%), but also that the large majority of participants found the study important and that questions were answered truthfully.Responding that partaking in the study was not personally gratifying was associated with training more hours.When implementing cross-sectional epidemiological studies of sexual abuse in athletics, it is necessary to promote and facilitate athlete participation. PMID:25729306

  5. Swedish nuclear waste efforts

    SciTech Connect

    Rydberg, J.

    1981-09-01

    After the introduction of a law prohibiting the start-up of any new nuclear power plant until the utility had shown that the waste produced by the plant could be taken care of in an absolutely safe way, the Swedish nuclear utilities in December 1976 embarked on the Nuclear Fuel Safety Project, which in November 1977 presented a first report, Handling of Spent Nuclear Fuel and Final Storage of Vitrified Waste (KBS-I), and in November 1978 a second report, Handling and Final Storage of Unreprocessed Spent Nuclear Fuel (KBS II). These summary reports were supported by 120 technical reports prepared by 450 experts. The project engaged 70 private and governmental institutions at a total cost of US $15 million. The KBS-I and KBS-II reports are summarized in this document, as are also continued waste research efforts carried out by KBS, SKBF, PRAV, ASEA and other Swedish organizations. The KBS reports describe all steps (except reprocessing) in handling chain from removal from a reactor of spent fuel elements until their radioactive waste products are finally disposed of, in canisters, in an underground granite depository. The KBS concept relies on engineered multibarrier systems in combination with final storage in thoroughly investigated stable geologic formations. This report also briefly describes other activities carried out by the nuclear industry, namely, the construction of a central storage facility for spent fuel elements (to be in operation by 1985), a repository for reactor waste (to be in operation by 1988), and an intermediate storage facility for vitrified high-level waste (to be in operation by 1990). The R and D activities are updated to September 1981.

  6. [A lethal variant of Netherton syndrome in a large inbred family].

    PubMed

    Capri, Y; Vanlieferinghen, P; Boeuf, B; Dechelotte, P; Hovnanian, A; Lecomte, B

    2011-03-01

    Netherton syndrome is a rare autosomal recessive disorder characterized by the triad of ichthyosiform erythrodermia, typical hair dysplasia, and severe atopic features. The broad range of variable expression of this disease is well described and 20% of complications occur during the neonatal period such as hypernatremic dehydration, electrolyte imbalances, recurrent or severe infections, and failure to thrive. Mutation of the SPINK5 gene has been identified as disease-causing in Netherton syndrome, but the pathophysiology still remains unclear. Almost all SPINK5 mutations result in the absence of the serine-protease inhibitor LEKTI protein in both keratinocytes and lymphocytes. In this study, we report on a severe form of Netherton syndrome observed in three patients within a large inbred Rom family. All of them died in the first months of life despite early treatment. They were found to be homozygous for the c.1431-12G>A SPINK5 gene mutation, which has not been associated with a lethal form of the disease thus far. This family illustrates the extreme phenotype of Netherton disease of neonatal onset. Molecular diagnosis allowed further genetic counseling and prenatal testing during other pregnancies. PMID:21255986

  7. Functional Divergence of the Glutathione S-Transferase Supergene Family in Physcomitrella patens Reveals Complex Patterns of Large Gene Family Evolution in Land Plants1[W][OA

    PubMed Central

    Liu, Yan-Jing; Han, Xue-Min; Ren, Lin-Ling; Yang, Hai-Ling; Zeng, Qing-Yin

    2013-01-01

    Plant glutathione S-transferases (GSTs) are multifunctional proteins encoded by a large gene family that play major roles in the detoxification of xenobiotics and oxidative stress metabolism. To date, studies on the GST gene family have focused mainly on vascular plants (particularly agricultural plants). In contrast, little information is available on the molecular characteristics of this large gene family in nonvascular plants. In addition, the evolutionary patterns of this family in land plants remain unclear. In this study, we identified 37 GST genes from the whole genome of the moss Physcomitrella patens, a nonvascular representative of early land plants. The 37 P. patens GSTs were divided into 10 classes, including two new classes (hemerythrin and iota). However, no tau GSTs were identified, which represent the largest class among vascular plants. P. patens GST gene family members showed extensive functional divergence in their gene structures, gene expression responses to abiotic stressors, enzymatic characteristics, and the subcellular locations of the encoded proteins. A joint phylogenetic analysis of GSTs from P. patens and other higher vascular plants showed that different class GSTs had distinct duplication patterns during the evolution of land plants. By examining multiple characteristics, this study revealed complex patterns of evolutionary divergence among the GST gene family in land plants. PMID:23188805

  8. The Swedish duty hour enigma

    PubMed Central

    2014-01-01

    Background The Swedish resident duty hour limit is regulated by Swedish and European legal frameworks. With a maximum average of 40 working hours per week, the Swedish duty hour regulation is one of the most restrictive in the world. At the same time, the effects of resident duty hour limits have been neither debated nor researched in the Swedish context. As a result, little is known about the Swedish conceptual framework for resident duty hours, their restriction, or their outcomes: we call this “the Swedish duty hour enigma.” This situation poses a further question: How do Swedish residents themselves construct a conceptual framework for duty hour restrictions? Methods A case study was conducted at Karolinska University Hospital, Stockholm – an urban, research-intensive hospital setting. Semi-structured interviews were carried out with 34 residents currently in training in 6 specialties. The empirical data analysis relied on theoretical propositions and was conducted thematically using a pattern-matching technique. The interview guide was based on four main topics: the perceived effect of duty hour restrictions on (1) patient care, (2) resident education, (3) resident well-being, and (4) research. Results The residents did not perceive the volume of duty hours to be the main determinant of success or failure in the four contextual domains of patient care, resident education, resident well-being, and research. Instead, they emphasized resident well-being and a desire for flexibility. Conclusions According to Swedish residents’ conceptual framework on duty hours, the amount of time spent on duty is not a proxy for the quality of resident training. Instead, flexibility, organization, and scheduling of duty hours are considered to be the factors that have the greatest influence on resident well-being, quality of learning, and opportunities to attain the competence needed for independent practice. PMID:25559074

  9. The Role of Family Environment in Depressive Symptoms among University Students: A Large Sample Survey in China

    PubMed Central

    Yang, Yanjie; Chen, Lu; Qiu, Xiaohui; Qiao, Zhengxue; Zhou, Jiawei; Pan, Hui; Ban, Bo; Zhu, Xiongzhao; He, Jincai; Ding, Yongqing; Bai, Bing

    2015-01-01

    Objective To explore the relationship between family environment and depressive symptoms and to evaluate the influence of hard and soft family environmental factors on depression levels in a large sample of university students in China. Methods A multi-stage stratified sampling procedure was used to select 6,000 participants. The response rate was 88.8%, with 5,329 students completing the Beck Depression Inventory (BDI) and the Family Environment Scale Chinese Version (FES-CV), which was adapted for the Chinese population. Differences between the groups were tested for significance by the Student’s t-test; ANOVA was used to test continuous variables. The relationship between soft family environmental factors and BDI were tested by Pearson correlation analysis. Hierarchical linear regression analysis was conducted to model the effects of hard environmental factors and soft environmental factors on depression in university students. Results A total of 11.8% of students scored above the threshold of moderate depression(BDI≧14). Hard family environmental factors such as parent relationship, family economic status, level of parental literacy and non-intact family structure were associated with depressive symptoms. The soft family environmental factors—conflict and control—were positively associated with depression, while cohesion was negatively related to depressive symptom after controlling for other important associates of depression. Hierarchical regression analysis indicated that the soft family environment correlates more strongly with depression than the hard family environment. Conclusions Soft family environmental factors—especially cohesion, conflict and control—appeared to play an important role in the occurrence of depressive symptoms. These findings underline the significance of the family environment as a source of risk factors for depression among university students in China and suggest that family-based interventions and improvement are very

  10. Several Families of Sequences with Low Correlation and Large Linear Span

    NASA Astrophysics Data System (ADS)

    Zeng, Fanxin; Zhang, Zhenyu

    In DS-CDMA systems and DS-UWB radios, low correlation of spreading sequences can greatly help to minimize multiple access interference (MAI) and large linear span of spreading sequences can reduce their predictability. In this letter, new sequence sets with low correlation and large linear span are proposed. Based on the construction Trm1[Trnm(αbt+γiαdt)]r for generating p-ary sequences of period pn-1, where n=2m, d=upm±v, b=u±v, γi∈GF(pn), and p is an arbitrary prime number, several methods to choose the parameter d are provided. The obtained sequences with family size pn are of four-valued, five-valued, six-valued or seven-valued correlation and the maximum nontrivial correlation value is (u+v-1)pm-1. The simulation by a computer shows that the linear span of the new sequences is larger than that of the sequences with Niho-type and Welch-type decimations, and similar to that of [10].

  11. Stimulation of lignocellulosic biomass hydrolysis by proteins of glycoside hydrolase family 61: structure and function of a large, enigmatic family.

    PubMed

    Harris, Paul V; Welner, Ditte; McFarland, K C; Re, Edward; Navarro Poulsen, Jens-Christian; Brown, Kimberly; Salbo, Rune; Ding, Hanshu; Vlasenko, Elena; Merino, Sandy; Xu, Feng; Cherry, Joel; Larsen, Sine; Lo Leggio, Leila

    2010-04-20

    Currently, the relatively high cost of enzymes such as glycoside hydrolases that catalyze cellulose hydrolysis represents a barrier to commercialization of a biorefinery capable of producing renewable transportable fuels such as ethanol from abundant lignocellulosic biomass. Among the many families of glycoside hydrolases that catalyze cellulose and hemicellulose hydrolysis, few are more enigmatic than family 61 (GH61), originally classified based on measurement of very weak endo-1,4-beta-d-glucanase activity in one family member. Here we show that certain GH61 proteins lack measurable hydrolytic activity by themselves but in the presence of various divalent metal ions can significantly reduce the total protein loading required to hydrolyze lignocellulosic biomass. We also solved the structure of one highly active GH61 protein and find that it is devoid of conserved, closely juxtaposed acidic side chains that could serve as general proton donor and nucleophile/base in a canonical hydrolytic reaction, and we conclude that the GH61 proteins are unlikely to be glycoside hydrolases. Structure-based mutagenesis shows the importance of several conserved residues for GH61 function. By incorporating the gene for one GH61 protein into a commercial Trichoderma reesei strain producing high levels of cellulolytic enzymes, we are able to reduce by 2-fold the total protein loading (and hence the cost) required to hydrolyze lignocellulosic biomass. PMID:20230050

  12. Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia.

    PubMed

    Raal, Frederick J; Sjouke, Barbara; Hovingh, G Kees; Isaac, Barton F

    2016-06-01

    These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR) functional status with these phenotypic data. A full description of these data is available in our recent study published in Atherosclerosis, "Phenotype Diversity Among Patients With Homozygous Familial Hypercholesterolemia: A Cohort Study" (Raal et al., 2016) [1]. PMID:27182539

  13. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

    PubMed

    Gutiérrez-Enríquez, Sara; de la Hoya, Miguel; Martínez-Bouzas, Cristina; Sanchez de Abajo, Ana; Ramón y Cajal, Teresa; Llort, Gemma; Blanco, Ignacio; Beristain, Elena; Díaz-Rubio, Eduardo; Alonso, Carmen; Tejada, María-Isabel; Caldés, Trinidad; Diez, Orland

    2007-05-01

    Germ-line mutations in BRCA1 and BRCA2 are responsible for about 30-60% of the hereditary breast and ovarian cancer (HBOC). A large number of point mutations have been described in both genes. However, large deletions and duplications that disrupt one or more exons are overlooked by point mutation detection approaches. Over the past years several rearrangements have been identified in BRCA1, while few studies have been designed to screen this type of mutations in BRCA2. Our aim was to estimate the prevalence of large genomic rearrangements in the BRCA2 gene in Spanish breast/ovarian cancer families. The multiplex ligation-dependent probe amplification (MLPA) was employed to search gross deletions or duplications of BRCA2 in 335 Spanish moderate to high-risk breast/ovarian cancer families previously screened negative for point mutations by conventional methods. Four different and novel large genomic alterations were consistently identified by MLPA in five families, respectively: deletions of exon 2, exons 10-12 and exons 15-16 and duplication of exon 20 (in two families). RT-PCR experiments confirmed the deletion of exons 15-16. All patients harbouring a genomic rearrangement were members of high-risk families, with three or more breast/ovarian cancer cases or the presence of breast cancer in males. We provide evidence that the BRCA2 rearrangements seem to account for a relatively small proportion of familial breast cancer cases in Spanish population. The screening for these alterations as part of the comprehensive genetic testing can be recommended, especially in multiple case breast/ovarian families and families with male breast cancer cases. PMID:17063271

  14. From new genetics to everyday knowledge: Ideas about how genetic diseases are transmitted in two large Brazilian families

    NASA Astrophysics Data System (ADS)

    Santos, Silvana; Bizzo, Nelio

    2005-07-01

    This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected with a neurodegenerative disorder, SPOAN syndrome (spastic paraplegia, optic atrophy and neuropathy), and 40 individuals of another family living with neurofibromatosis type 1 (NF1). The results indicate that families here studied have built narratives to explain the origin of genetic diseases, saying that an ancestor infected with syphilis gave rise to disorders and birthmarks transmitted to descendents.

  15. Intense paramagnon excitations in a large family of high-temperature superconductors

    NASA Astrophysics Data System (ADS)

    Le Tacon, Mathieu

    2012-02-01

    Motivated by the search for the mechanism of high-temperature superconductivity, an intense research effort has been focused on the evolution of the spin excitation spectrum upon doping from the antiferromagnetic insulating to the superconducting states of the cuprates. Because of technical limitations, however, the experimental investigation of doped cuprates has been largely focused on excitations with energies <=100 meV in a small range of momentum space [1]. Here we take advantage of the recent developments of high-resolution resonant inelastic x-ray scattering [2,3] to show that a large family of superconductors, encompassing the model compounds YBa2Cu4O8 and YBa2Cu3O7, exhibits damped spin excitations - or paramagnons - with dispersions and spectral weights closely similar to those of magnons in undoped, antiferromagnetically ordered cuprates over much of the Brillouin zone. The results are in excellent agreement with the spin excitations obtained by exact diagonalization of the t-J Hamiltonian on finite-sized clusters. A numerical solution of the Eliashberg equations based on the experimental spin excitation spectrum of YBa2Cu3O7 reproduces its superconducting transition temperature Tc within a factor of two. The discovery of a well-defined, surprisingly simple spin excitation branch over a wide range of doping levels thus strongly supports magnetic Cooper pairing models for the cuprates [4]. [4pt] [1] M. Fujita et al. arXiv/condmat:1108.4431[0pt] [2] G. Ghiringhelli et al., Review of Scientific Instruments, 77, (2006).[0pt] [3] L. Braicovich et al., Phys. Rev. Lett., 104, 077002 (2010).[0pt] [4] M. Le Tacon et al., Nature Physics 7, 725 (2011).

  16. Revisiting Myosin Families Through Large-scale Sequence Searches Leads to the Discovery of New Myosins

    PubMed Central

    Pasha, Shaik Naseer; Meenakshi, Iyer; Sowdhamini, Ramanathan

    2016-01-01

    Myosins are actin-based motor proteins involved in many cellular movements. It is interesting to study the evolutionary patterns and the functional attributes of various types of myosins. Computational search algorithms were performed to identify putative myosin members by phylogenetic analysis, sequence motifs, and coexisting domains. This study is aimed at understanding the distribution and the likely biological functions of myosins encoded in various taxa and available eukaryotic genomes. We report here a phylogenetic analysis of around 4,064 myosin motor domains, built entirely from complete or near-complete myosin repertoires incorporating many unclassified, uncharacterized sequences and new myosin classes, with emphasis on myosins from Fungi, Haptophyta, and other Stramenopiles, Alveolates, and Rhizaria (SAR). The identification of large classes of myosins in Oomycetes, Cellular slime molds, Choanoflagellates, Pelagophytes, Eustigmatophyceae, Fonticula, Eucoccidiorida, and Apicomplexans with novel myosin motif variants that are conserved and thus presumably functional extends our knowledge of this important family of motor proteins. This work provides insights into the distribution and probable function of myosins including newly identified myosin classes. PMID:27597808

  17. Revisiting Myosin Families Through Large-scale Sequence Searches Leads to the Discovery of New Myosins.

    PubMed

    Pasha, Shaik Naseer; Meenakshi, Iyer; Sowdhamini, Ramanathan

    2016-01-01

    Myosins are actin-based motor proteins involved in many cellular movements. It is interesting to study the evolutionary patterns and the functional attributes of various types of myosins. Computational search algorithms were performed to identify putative myosin members by phylogenetic analysis, sequence motifs, and coexisting domains. This study is aimed at understanding the distribution and the likely biological functions of myosins encoded in various taxa and available eukaryotic genomes. We report here a phylogenetic analysis of around 4,064 myosin motor domains, built entirely from complete or near-complete myosin repertoires incorporating many unclassified, uncharacterized sequences and new myosin classes, with emphasis on myosins from Fungi, Haptophyta, and other Stramenopiles, Alveolates, and Rhizaria (SAR). The identification of large classes of myosins in Oomycetes, Cellular slime molds, Choanoflagellates, Pelagophytes, Eustigmatophyceae, Fonticula, Eucoccidiorida, and Apicomplexans with novel myosin motif variants that are conserved and thus presumably functional extends our knowledge of this important family of motor proteins. This work provides insights into the distribution and probable function of myosins including newly identified myosin classes. PMID:27597808

  18. Love and sex in the Swedish media.

    PubMed

    Boethius, C G

    1986-01-01

    Attitudes toward teenage sexuality are markedly different in Sweden and the US. The more accepting attitude toward adolescent sexuality and the greater availability of family planning information and services may explain why Sweden has a lower adolescent pregnancy, abortion, and childbirth rate than the US. In contrast to the situation in the US, the Swedish mass media presents a realistic view of sexuality to the youth of the nation. It stresses the responsible use of contraception and the need to protect against sexually transmitted diseases in both its entertainment and educational shows. No commercials are aired on Swedish TV; therefore, Swedish youth are not exposed to the blatant and irresponsible image of sex frequently conveyed by commercials in the US. Moreover, in Sweden, parents accept the fact that their older teenagers will engage in sexual activity and help their children prepare for this activity. As a result, teenagers are reassured that their parents understand their feelings and emotions. These teenagers, in turn, are likely to accept their parents' advice about engaging in responsible sexual behavior. In contrast, in societies like the US, which are nonaccepting of adolescent sexual behavior, teenagers are likely to feel their parents and the larger society do not understand their feelings. These teenagers are likely to reject parental or societal advice on sexual matters. Sweden's accepting attitude toward adolescent sexuality is relatively recent. Prior to the 1960s, attitudes in Sweden were similar to those of present day American society. Eventually the government, the schools, and the parents recognized that they were creating a breach between the generations, and they gradually adopted a more realistic and accepting stance on sexual matters. By 1970, all Swedish children were receiving sex education in school. Television programing in sex education began in the 1960s. The broad distribution of printed sex education materials also began in

  19. Work environment and production development in Swedish manufacturing industry.

    PubMed

    Johansson, Bo

    2010-01-01

    Swedish manufacturing industry has previous held a leading position regarding the development of attractive industrial work environments, but increasing market competition has changed the possibilities to maintain the position. The purpose of this literature study is therefore to describe and analyze how Swedish manufacturing industry manages work environment and production development in the new millennium. The description and analysis is based on recently reported Swedish research and development. The gathered picture of how production systems generally are developed in Sweden strongly contrasts against the idealized theoretical and legal view of how production systems should be developed. Even if some of the researchers' and authorities' ambitions and demands may seem unrealistically high today, there still is a very large potential for improving the processes and tools for designing production systems and work environment. PMID:20828493

  20. Familial pheochromocytoma, hypercalcemia, and von Hippel-Lindau disease. A ten year study of a large family.

    PubMed

    Atuk, N O; McDonald, T; Wood, T; Carpenter, J T; Walzak, M P; Donaldson, M; Gillenwater, J Y

    1979-05-01

    Long-term epidemiological and laboratory studies were carried out in a kindred with familial pheochromocytoma associated with von Hippel-Lindau disease. Thirteen members were affected by the syndrome and the trait appears to be transmitted in an autosomal dominant fashion. Of 13 patients, 7 had pheochromocytoma alone. Of the remaining six patients, one had pheochromocytoma combined with von Hippel-Lindau disease, four had pheochromocytoma with retinal disease only, and a single patient had a retinal lesion without pheochromocytoma. In four patients, pheochromocytoma antedated the development of retinal lesions. Ten members also had mild hypercalcemia without accompanying elevations of PTH in the 4 patients in whom this was determined. In all, hypercalcemia was corrected with removal of tumors, and no patient had a return of hypercalcemia in the absence of recurrent increases in urinary catecholamines. The clinical presentations in 12 patients varied markedly, as did their urinary excretion rates of norepinephrine, epinephrine and their metabolites. However, an analysis of the data revealed significant correlations not previously described between the urinary excretion of free catecholamines (norepinephrine plus epinephrine), blood pressure, the free catecholamine content of the tumor and the age of the patient. Urinary excretion of free norepinephrine plus epinephrine appear to be decreased with advancing age (p less than 0.001). Both systolic and diastolic blood pressures and the age of the patient were inversely correlated (p less than 0.01). A significant inverse relationship between the tumor content of free catecholamines and the age of the patients was, although to a lesser degree, also present (p less than 0.05). As a whole, the size of the tumors and their norepinephrine content were not correlated. We present a concept that, in familial pheochromocytoma, the metabolism of catecholamines is altered by the process of aging, and that this change modifies the

  1. Obstetric Thromboprophylaxis: The Swedish Guidelines

    PubMed Central

    Lindqvist, Pelle G.; Hellgren, Margareta

    2011-01-01

    Obstetric thromboprophylaxis is difficult. Since 10 years Swedish obstetricians have used a combined risk estimation model and recommendations concerning to whom, at what dose, when, and for how long thromboprophylaxis is to be administrated based on a weighted risk score. In this paper we describe the background and validation of the Swedish guidelines for obstetric thromboprophylaxis in women with moderate-high risk of VTE, that is, at similar or higher risk as the antepartum risk among women with history of thrombosis. The risk score is based on major risk factors (i.e., 5-fold increased risk of thromboembolism). We present data on the efficacy of the model, the cost-effectiveness, and the lifestyle advice that is given. We believe that the Swedish guidelines for obstetric thromboprophylaxis aid clinicians in providing women at increased risk of VTE with effective and appropriate thromboprophylaxis, thus avoiding both over- and under-treatment. PMID:22162688

  2. Atrial fibrillation anticoagulation care in a large urban family medicine practice

    PubMed Central

    Valentinis, Alissia; Ivers, Noah; Bhatia, Sacha; Meshkat, Nazanin; Leblanc, Kori; Ha, Andrew; Morra, Dante

    2014-01-01

    Abstract Objective To determine the proportion of patients with atrial fibrillation (AF) in primary care achieving guideline-concordant stroke prevention treatment based on both the previous (2010) and the updated (2012) Canadian guideline recommendations. Design Retrospective chart review. Participants Primary care patients (N = 204) with AF. The mean age was 71.3 years and 53.4% were women. Setting Large urban community family practice in Toronto, Ont. Main outcome measures Patient demographic characteristics such as sex and age; a list of current cardiac medications including anticoagulants and antiplatelets; the total number of medications; relevant current and past medical history including presence of diabetes, stroke or transient ischemic attack, hypertension, and vascular disease; number of visits to the family physician and cardiologist in the past year and past 5 years, and how many of these were for AF; the number of visits to the emergency department or hospitalizations for AF, congestive heart failure, or stroke; if patients were taking warfarin, how often their international normalized ratios were recorded, and how many times they were in the reference range; CHADS2 (congestive heart failure, hypertension, age ≥ 75, diabetes mellitus, and stroke or transient ischemic attack) score, if recorded; and reason for not taking oral anticoagulants when they should have been, if recorded. Results Among those who had CHADS2 scores of 0, 64 patients (97.0%) were receiving appropriate stroke prevention in AF (SPAF) treatment according to the 2010 guidelines. When the 2012 guidelines were applied, 39 patients (59.1%) were receiving appropriate SPAF treatment (P < .001). For those with CHADS2 scores of 1, 88.4% of patients had appropriate SPAF treatment according to the 2010 guidelines, but only 55.1% were adequately treated according to the 2012 guidelines (P < .001). Of the patients at the highest risk (CHADS2 score > 1), 68.1% were adequately treated with

  3. Familiality of Co-existing ADHD and Tic Disorders: Evidence from a Large Sibling Study

    PubMed Central

    Roessner, Veit; Banaschewski, Tobias; Becker, Andreas; Buse, Judith; Wanderer, Sina; Buitelaar, Jan K.; Sergeant, Joseph A.; Sonuga-Barke, Edmund J.; Gill, Michael; Manor, Iris; Miranda, Ana; Mulas, Fernando; Oades, Robert D.; Roeyers, Herbert; Steinhausen, Hans-Christoph; Faraone, Steven V.; Asherson, Philip; Rothenberger, Aribert

    2016-01-01

    Background: The association of attention-deficit/hyperactivity disorder (ADHD) and tic disorder (TD) is frequent and clinically important. Very few and inconclusive attempts have been made to clarify if and how the combination of ADHD+TD runs in families. Aim: To determine the first time in a large-scale ADHD sample whether ADHD+TD increases the risk of ADHD+TD in siblings and, also the first time, if this is independent of their psychopathological vulnerability in general. Methods: The study is based on the International Multicenter ADHD Genetics (IMAGE) study. The present sub-sample of 2815 individuals included ADHD-index patients with co-existing TD (ADHD+TD, n = 262) and without TD (ADHD–TD, n = 947) as well as their 1606 full siblings (n = 358 of the ADHD+TD index patients and n = 1248 of the ADHD-TD index patients). We assessed psychopathological symptoms in index patients and siblings by using the Strength and Difficulties Questionnaire (SDQ) and the parent and teacher Conners' long version Rating Scales (CRS). For disorder classification the Parental Account of Childhood Symptoms (PACS-Interview) was applied in n = 271 children. Odds ratio with the GENMOD procedure (PROCGENMOD) was used to test if the risk for ADHD, TD, and ADHD+TD in siblings was associated with the related index patients' diagnoses. In order to get an estimate for specificity we compared the four groups for general psychopathological symptoms. Results: Co-existing ADHD+TD in index patients increased the risk of both comorbid ADHD+TD and TD in the siblings of these index patients. These effects did not extend to general psychopathology. Interpretation: Co-existence of ADHD+TD may segregate in families. The same holds true for TD (without ADHD). Hence, the segregation of TD (included in both groups) seems to be the determining factor, independent of further behavioral problems. This close relationship between ADHD and TD supports the clinical approach to carefully assess ADHD in any case

  4. Immigrant Children's Swedish--A New Variety?

    ERIC Educational Resources Information Center

    Kotsinas, Ulla-Britt

    1988-01-01

    Posits two hypotheses arising from the great immigration to Sweden and the immigrants' use and learning of Swedish: (1) Swedish as used by immigrant children may show certain features, related to a creolization process; and (2) the Swedish language may in future show signs of influence from the varieties used by persons with immigrant background.…

  5. Family Size, Birth Order, and Intelligence in a Large South American Sample

    ERIC Educational Resources Information Center

    Velandia, Wilson; And Others

    1978-01-01

    According to confluence theory, a child is helped or hindered in intellectual development according to the average absolute intelligence (mental age) in the family when the child is born. An analysis of test scores, family information, and socioeconomic data of 36,000 college applicants in Colombia failed to support this theory. (Author/CP)

  6. The Swedish Schools Inspectorate's View of Swedish Schools

    ERIC Educational Resources Information Center

    Lindström, Lisbeth; Perdahl, Solange

    2014-01-01

    The purpose of this article is to shed some light on and give some examples of how the Swedish schools have interpreted their mission of educating young people and preparing them for the role of active citizens. More specifically, we are interested in how the "good" or "aspirational" school is presented in the reports published…

  7. Characterization of the p16 gene in the mouse: Evidence for a large gene family

    SciTech Connect

    Fountain, J.W.; Giendening, J.M.; Flores, J.F.

    1994-09-01

    The p16 gene product is an inhibitor of the cyclin-dependent kinase 4 (CDK4)/cyclin D complex. When uninhibited, the CDK4/cyclin D complex participates in the phosphorylation of the retinoblastoma (RB) protein and renders it inactive. Upon inactivation of the RB protein, transition from the G{sub 1} to the S phase of mitosis occurs and results in cellular proliferation. Thus, p16 is presumed to act as a negative regulator of cell growth by preventing the phosphorylation, and thereby subsequent inactivation, of RB by CDK4/cyclin D. Recently, the p16 gene (also known as the multiple tumor suppressor 1 (MTS1) gene) has been mapped to chromosome 9p21 and found to be deleted or mutated in a number of tumor cell lines. These findings support the role of p16 as a growth inhibitor or tumor suppressor gene and suggest that the mutation of this gene may have global implications in carcinogenesis. We have chosen to test the functional significance of p16 mutations in vivo through the generation of a mouse mutant for p16. In preparation for this undertaking, eight apparently independent (as judged by restriction enzyme digestion and differential hybridization) mouse genomic embryonic stem cell clones have been identified using exon 2 from the human p16 gene as a probe. The identification of these multiple nonoverlapping clones was not entirely surprising since the reduced stringency hybridization of a zoo blot with the same probe also revealed 10-15 positive EcoRI fragments in all species tested, including human, monkey, cow, dog, cat, rabbit, hamster, mouse, chicken and D. melanogaster. Taken together, these findings suggest that the p16 gene is a member of a large gene family. The location of these genomic clones, as well as their potential expression in the mouse, is currently under investigation.

  8. From "New Genetics" to Everyday Knowledge: Ideas about How Genetic Diseases Are Transmitted in Two Large Brazilian Families

    ERIC Educational Resources Information Center

    Santos, Silvana; Bizzo, Nelio

    2005-01-01

    This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected…

  9. Family size, birth order, and intelligence in a large South American sample.

    PubMed

    Velandia, W; Grandon, G M; Page, E B

    1978-01-01

    The confluence theory, which hypothesizes a relationship between intellectual development birth order, and family size, was examined in a colombian study of more than 36,000 college applicants. The results of the study did not support the confluence theory. The confluence theory states that the intellectual development of a child is related to average mental age of the members of his family at the time of his birth. The mental age of the parents is always assigned a value of 30 and siblings are given scores equivalent to their chronological age at the birth of the subject. Therefore, the average mental age of family members for a 1st born child is 30, or 60 divided by 2. If a subject is born into a family consisting of 2 parents and a 6-year old sibling, the average mental age of family members tends, therefore, to decrease with each birth order. The hypothesis derived from the confluence theory states that there is a positive relationship between average mental age of a subject's family and the subject's performance on intelligence tests. In the Colombian study, data on family size, birth order and socioeconomic status was derived from college application forms. Intelligence test scores for each subject was obtained from college entrance exams. The mental age of each applicant's family at the time of the applicant's birth was calculated. Multiple correlation analysis and path analysis were used to assess the relationship. Results were 1) the test scores of subjects from families with 2,3,4, and 5 children were higher than test scores of the 1st born subjects; 2) the rank order of intelligence by family size was 3,4,5,2,6,1 instead of the hypothesized 1,2,3,4,5,6; and 3) only 1% of the variability in test scores was explained by the variables of birth order and family size. Further analysis indicated that socioeconomic status was a far more powerful explanatory variable than family size. PMID:12266293

  10. New Swedish Cultural Environment Protection.

    ERIC Educational Resources Information Center

    Ministry of Education and Cultural Affairs, Stockholm (Sweden).

    Current Swedish cultural policy was laid down in 1974. It was decided that one of the aims of that policy must be to ensure that earlier periods of history would be preserved and brought to life. The Government Bill (Prop. 1987/88:104) on protection of the cultural environment is concerned with helping the general public understand that cultural…

  11. Successful Principalship: The Swedish Case

    ERIC Educational Resources Information Center

    Hoog, Jonas; Johansson, Olof; Olofsson, Anders

    2005-01-01

    Purpose: This paper seeks to describe the Swedish compulsory school system and explore a hypothesis about the relationship between structure, culture and leadership as preconditions for successful principalship. Design/methodology/approach: On the basis of earlier research, argues that a principal's success depends on how he or she alters school…

  12. Swedish discovery: magnetic fines recovery

    SciTech Connect

    Hervol, J.D.

    1984-07-01

    A Swedish device, the Magnadisc, which recovers magnetite fines normally lost in tailings is described. The system was developed in the 1970s, but has reached the US only recently. Tests carried out by EPRI are reported and the results are presented. These indicate that the machine can recover a significant percentage of magnetite currently discharged in the tailings from magnetic drum separators.

  13. Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma

    PubMed Central

    Mimiwati, Z; Nurliza, K; Marini, M; Liza-Sharmini, AT

    2014-01-01

    Purpose To screen for mutations in the coding region of the myocilin (MYOC) gene in a large Malay family with juvenile-onset open angle glaucoma (JOAG). Methods A total of 122 family members were thoroughly examined and screened for JOAG. Venipuncture was conducted. Genomic DNA was extracted from peripheral blood leukocytes. The presence of a mutation and a polymorphism was ascertained with PCR amplification followed by the direct sequencing technique. Results Thirty-two of the 122 screened family members were identified to have JOAG (11 new cases and 21 known cases). An autosomal dominant inheritance pattern with incomplete penetrance was observed. A C→A substitution at position 1440 in exon 3 that changes asparagine (AAC) to lysine (AAA) was identified in affected family members except two probands (III:5 and IV:6). Six probands were identified as having the Asn480Lys mutation but have not developed the disease yet. An intronic polymorphism IVS2 730 +35 G>A was also identified. There was a significant association between Asn480Lys (p<0.001) and IVS2 730+35G>A (p<0.001) in the affected and unaffected probands in this family. Conclusions The Asn480Lys mutation and the IVS2 730+35 G>A polymorphism increased susceptibility to JOAG in this large Malay pedigree. Identifying the MYOC mutations and polymorphisms is important for providing presymptomatic molecular diagnosis. PMID:24883016

  14. Achieving patient and family engagement through the implementation and evolution of advisory councils across a large health care system.

    PubMed

    Haycock, Camille; Wahl, Carol

    2013-01-01

    Over the past decade, hospitals and health care systems have responded to the call for increased patient engagement and person-centered care. Organizations across the country have developed models and tools to assist in the effort toward patient and family engagement in health care delivery. In addition, current literature and trends suggest that patient satisfaction and quality outcomes are improved when patients and families become partners in their own health care and the delivery of that care. However, to formalize a patient-centric structure and process across a large health care system that is aimed at patient and family engagement can be a daunting activity. Utilizing well-established tools, Catholic Health Initiatives was successful in implementing the structures to deploy the ideas of patients and families in multiple facilities and care settings across 19 states. Nursing leaderships, in partnership with patients and their families within this health care delivery system, were the key contributors to the implementation of formalized patient and family advisory councils in hospitals across the enterprise. PMID:23744470

  15. Structural, Functional, and Evolutionary Analysis of the Unusually Large Stilbene Synthase Gene Family in Grapevine1[W

    PubMed Central

    Parage, Claire; Tavares, Raquel; Réty, Stéphane; Baltenweck-Guyot, Raymonde; Poutaraud, Anne; Renault, Lauriane; Heintz, Dimitri; Lugan, Raphaël; Marais, Gabriel A.B.; Aubourg, Sébastien; Hugueney, Philippe

    2012-01-01

    Stilbenes are a small family of phenylpropanoids produced in a number of unrelated plant species, including grapevine (Vitis vinifera). In addition to their participation in defense mechanisms in plants, stilbenes, such as resveratrol, display important pharmacological properties and are postulated to be involved in the health benefits associated with a moderate consumption of red wine. Stilbene synthases (STSs), which catalyze the biosynthesis of the stilbene backbone, seem to have evolved from chalcone synthases (CHSs) several times independently in stilbene-producing plants. STS genes usually form small families of two to five closely related paralogs. By contrast, the sequence of grapevine reference genome (cv PN40024) has revealed an unusually large STS gene family. Here, we combine molecular evolution and structural and functional analyses to investigate further the high number of STS genes in grapevine. Our reannotation of the STS and CHS gene families yielded 48 STS genes, including at least 32 potentially functional ones. Functional characterization of nine genes representing most of the STS gene family diversity clearly indicated that these genes do encode for proteins with STS activity. Evolutionary analysis of the STS gene family revealed that both STS and CHS evolution are dominated by purifying selection, with no evidence for strong selection for new functions among STS genes. However, we found a few sites under different selection pressures in CHS and STS sequences, whose potential functional consequences are discussed using a structural model of a typical STS from grapevine that we developed. PMID:22961129

  16. Reconstruction of Oomycete Genome Evolution Identifies Differences in Evolutionary Trajectories Leading to Present-Day Large Gene Families

    PubMed Central

    Seidl, Michael F.; Van den Ackerveken, Guido; Govers, Francine; Snel, Berend

    2012-01-01

    The taxonomic class of oomycetes contains numerous pathogens of plants and animals but is related to nonpathogenic diatoms and brown algae. Oomycetes have flexible genomes comprising large gene families that play roles in pathogenicity. The evolutionary processes that shaped the gene content have not yet been studied by applying systematic tree reconciliation of the phylome of these species. We analyzed evolutionary dynamics of ten Stramenopiles. Gene gains, duplications, and losses were inferred by tree reconciliation of 18,459 gene trees constituting the phylome with a highly supported species phylogeny. We reconstructed a strikingly large last common ancestor of the Stramenopiles that contained ∼10,000 genes. Throughout evolution, the genomes of pathogenic oomycetes have constantly gained and lost genes, though gene gains through duplications outnumber the losses. The branch leading to the plant pathogenic Phytophthora genus was identified as a major transition point characterized by increased frequency of duplication events that has likely driven the speciation within this genus. Large gene families encoding different classes of enzymes associated with pathogenicity such as glycoside hydrolases are formed by complex and distinct patterns of duplications and losses leading to their expansion in extant oomycetes. This study unveils the large-scale evolutionary dynamics that shaped the genomes of pathogenic oomycetes. By the application of phylogenetic based analyses methods, it provides additional insights that shed light on the complex history of oomycete genome evolution and the emergence of large gene families characteristic for this important class of pathogens. PMID:22230142

  17. Overexpression of Swedish mutant APP in aged astrocytes attenuates excitatory synaptic transmission.

    PubMed

    Katsurabayashi, Shutaro; Kawano, Hiroyuki; Ii, Miyuki; Nakano, Sachiko; Tatsumi, Chihiro; Kubota, Kaori; Takasaki, Kotaro; Mishima, Kenichi; Fujiwara, Michihiro; Iwasaki, Katsunori

    2016-01-01

    Amyloid precursor protein (APP), a type I transmembrane protein, has different aspects, namely, performs essential physiological functions and produces β-amyloid peptide (Aβ). Overexpression of neuronal APP is responsible for synaptic dysfunction. In the central nervous system, astrocytes - a major glial cell type - have an important role in the regulation of synaptic transmission. Although APP is expressed in astrocytes, it remains unclear whether astrocytic overexpression of mutant APP affects synaptic transmission. In this study, the effect of astrocytic overexpression of a mutant APP on the excitatory synaptic transmission was investigated using coculture system of the transgenic (Tg) cortical astrocytes that express the human APP695 polypeptide with the double mutation K670N + M671L found in a large Swedish family with early onset Alzheimer's disease, and wild-type hippocampal neuron. Significant secretion of Aβ 1-40 and 1-42 was observed in cultured cortical astrocytes from the Tg2576 transgenic mouse that genetically overexpresses Swedish mutant APP. Under the condition, Tg astrocytes did not affect excitatory synaptic transmission of cocultured wild-type neurons. However, aged Tg astrocytes cultured for 9 weeks elicited a significant decrease in excitatory synaptic transmission in cocultured neurons. Moreover, a reduction in the number of readily releasable synaptic vesicles accompanied a decrease in the number of excitatory synapses in neurons cocultured with aged Tg astrocytes. These observations indicate that astrocytic expression of the mutant APP is involved in the downregulation of synaptic transmission with age. PMID:26733247

  18. Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

    PubMed

    Mégarbané, A; Desguerres, I; Rizkallah, E; Delague, V; Nabbout, R; Barois, A; Urtizberea, A

    2000-05-15

    Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor nerves and upper motor neurons. Familial and sporadic cases have been reported. Based on particular evidence, autosomal recessive, autosomal dominant, and X-linked inheritance, as well as autoimmune origin have been considered. We report on a large inbred Lebanese family with four patients of both sexes, strongly suggesting autosomal recessive inheritance. PMID:10797435

  19. Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

    PubMed Central

    Raal, Frederick J.; Sjouke, Barbara; Hovingh, G. Kees; Isaac, Barton F.

    2016-01-01

    These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR) functional status with these phenotypic data. A full description of these data is available in our recent study published in Atherosclerosis, “Phenotype Diversity Among Patients With Homozygous Familial Hypercholesterolemia: A Cohort Study” (Raal et al., 2016) [1]. PMID:27182539

  20. The Swedish Allsky Meteor Network: first results

    NASA Astrophysics Data System (ADS)

    Stempels, E.; Kero, E.

    2016-01-01

    The Swedish Allsky Meteor Network started operations with two cameras in early 2014 and has since grown steadily. Currently, seven stations are active and several more will come online in the near future. The network to a large degree relies on low-cost stations run by private individuals or small societies of amateur astronomers. Originally based on the Danish meteor network Stjerneskud, the central node of Uppsala University provides the network with the necessary infrastructure, such as a continually updated software distribution and automatic processing of data from all stations. Although covering a very large land mass with relatively low resources is challenging, there have up to now been several well-observed events, often in collaboration with observations from neighboring countries. We give a short overview of the network's current status, chosen technical solutions, and some results.

  1. On family-based genome-wide association studies with large pedigrees: observations and recommendations.

    PubMed

    Fardo, David W; Zhang, Xue; Ding, Lili; He, Hua; Kurowski, Brad; Alexander, Eileen S; Mersha, Tesfaye B; Pilipenko, Valentina; Kottyan, Leah; Nandakumar, Kannabiran; Martin, Lisa

    2014-01-01

    Family based association studies are employed less often than case-control designs in the search for disease-predisposing genes. The optimal statistical genetic approach for complex pedigrees is unclear when evaluating both common and rare variants. We examined the empirical power and type I error rates of 2 common approaches, the measured genotype approach and family-based association testing, through simulations from a set of multigenerational pedigrees. Overall, these results suggest that much larger sample sizes will be required for family-based studies and that power was better using MGA compared to FBAT. Taking into account computational time and potential bias, a 2-step strategy is recommended with FBAT followed by MGA. PMID:25519377

  2. On the genetics of mandibular prognathism: analysis of large European noble families.

    PubMed Central

    Wolff, G; Wienker, T F; Sander, H

    1993-01-01

    Mandibular prognathism is assumed to be a polygenic trait in the vast majority of cases. In a few families, this phenotype and perhaps a syndrome with a broader spectrum of facial anomalies seems to be determined by a single dominant gene of very low frequency (McKusick No *176700). The phenotype is known to have occurred independently in several European noble families. We constructed a pedigree comprising 13 of these families with 409 members in 23 generations in which mandibular prognathism has been segregating. Obviously, the presumed dominant gene is not fully penetrant in the heterozygous state. Pedigree analysis using the Elston-Stewart algorithm yields a maximum likelihood estimate (MLE) of p = 0.955 (SE 0.038) of the penetrance parameter. Images PMID:8445614

  3. Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons

    PubMed Central

    Pages, S; Caux, V; Stoppa-Lyonnet, D; Tosi, M

    2001-01-01

    41 breast cancer or breast-ovarian cancer families, including 12 families with at least one affected first-degree male relative, were screened for mutations in the BRCA2 gene. Mutations had not been found in the BRCA1 gene of these families. Chemical cleavage of Mismatch was used to identify nucleotide changes within large PCR products (average size 1.2 kb) that carried strand-specific fluorescent end-labels. 15 amplicons were sufficient to scan 18 exons, including the large exon 11. The remaining 9 small exons were examined by Denaturing Gradient Gel Electrophoresis. The high sensitivity of this approach was documented by the detection, in these 41 patients, of all 9 exonic single nucleotide polymorphisms reported with heterozygosity >0.1. Truncating BRCA2 mutations were found in 7 of the 41 families. 3 of them were in the group of 12 families comprising cases of male breast cancer. Since the methods used here have no bias for particular types of mutations, these data confirm the high proportion of frameshifts among mutations in BRCA2. However, relevant single nucleotide substitutions were also found: one resulting in a stop codon and another one, present in a male patient, was the previously reported change Asp2723His, that affects a highly conserved region of the BRCA2 protein. This study indicates a BRCA2 contribution of 10% (95% CI 2.5–17.5) to our original cohort of 59 breast-ovarian cancer families, whereas the contribution of BRCA1 had been estimated at 46% (95% CI 33–59). © 2001 Cancer Research Campaign http://www.bjcancer.com PMID:11207042

  4. [Multiple endocrine neoplasia type 1: genetic study of a large family].

    PubMed

    Orellana, C; Palasí, R; Martínez, F; Ponce, J L; Gil Sanz, J; Sancho Fornos, S; Prieto, F

    1999-03-01

    Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an inherited disorder characterised by the predisposition of the cells from parathyroid glands, endocrine pancreas and adenohypophysis to develop neoplasms. We report the genetic study of an extended family with at least 8 affected patients and 10 putative carriers of a mutation in MEN-1 gene. One intragenic (Asp418 GAC-->GAT), and five flanking markers were characterised in the family by PCR amplification and polyachrylamide gel electrophoresis. Association of the disease to MEN-1 gene was confirmed for this family: all the affected members show a haplotype in common. Three patients at risk were diagnosed as non-carriers, since they have not inherited that haplotype. The remaining seven members, presymptomatic carriers, are included in a follow-up protocol. The genetic study of families segregating MEN-1 syndrome are useful in avoiding indiscriminate follow-up determinations to those members who have not received the genetic predisposition to develop any of the manifestations of the syndrome. Segregation analysis with linked markers is useful, under certain circumstances, to perform such type of studies. PMID:10207847

  5. The Swedish satellite project Viking

    SciTech Connect

    Hultqvist, B. )

    1990-05-01

    The Swedish satellite project Viking is described and related to earlier missions. Some new operational characteristics are discussed, including the real-time data analysis campaigns that were an important part of the project. Some areas of important scientific impact of the project are also described. Viking was specially designed and equipped for investigation of plasma physical acceleration and other processes in the transition region between hot and cold plasma on auroral latitude magnetic field lines.

  6. Present-Day Influence of English on Swedish as Found in Swedish Job Advertisements.

    ERIC Educational Resources Information Center

    Larson, Ben E.

    1990-01-01

    A brief analysis of job advertisements in Swedish newspapers notes the increasing trend toward the use of English rather than Swedish words for certain terms, attributing such use to the wish to show an international labor perspective. (five references) (CB)

  7. Lifestyle, Family History, and Risk of Idiopathic Parkinson Disease: A Large Danish Case-Control Study

    PubMed Central

    Kenborg, Line; Lassen, Christina F.; Ritz, Beate; Andersen, Klaus K.; Christensen, Jane; Schernhammer, Eva S.; Hansen, Johnni; Wermuth, Lene; Rod, Naja H.; Olsen, Jørgen H.

    2015-01-01

    The relationship between Parkinson disease (PD) and smoking has been examined in several studies, but little is known about smoking in conjunction with other behaviors and a family history of PD. Using unconditional logistic regression analysis, we studied individual and joint associations of these factors with idiopathic PD among 1,808 Danish patients who were diagnosed in 1996–2009 and matched to 1,876 randomly selected population controls. Although there was a downward trend in duration of smoking, this was not observed for daily tobacco consumption. A moderate intake of caffeine (3.1–5 cups/day) was associated with a lower odds ratio for PD (0.45, 95% confidence interval: 0.34, 0.62), as was a moderate intake of alcohol (3.1–7 units/week) (odds ratio = 0.60, 95% confidence interval: 0.58, 0.84); a higher daily intake did not reduce the odds further. When these behaviors were studied in combination with smoking, the odds ratios were lower than those for each one alone. Compared with never smokers with no family history of PD, never smokers who did have a family history had an odds ratio of 2.81 (95% confidence interval: 1.91, 4.13); for smokers with a family history, the odds ratio was 1.60 (95% confidence interval: 1.15, 2.23). In conclusion, duration of smoking seems to be more important than intensity in the relationship between smoking and idiopathic PD. The finding of lower risk estimates for smoking in combination with caffeine or alcohol requires further confirmation. PMID:25925389

  8. bZIPs and WRKYs: two large transcription factor families executing two different functional strategies

    PubMed Central

    Llorca, Carles M.; Potschin, Maren; Zentgraf, Ulrike

    2014-01-01

    bZIPs and WRKYs are two important plant transcription factor (TF) families regulating diverse developmental and stress-related processes. Since a partial overlap in these biological processes is obvious, it can be speculated that they fulfill non-redundant functions in a complex regulatory network. Here, we focus on the regulatory mechanisms that are so far described for bZIPs and WRKYs. bZIP factors need to heterodimerize for DNA-binding and regulation of transcription, and based on a bioinformatics approach, bZIPs can build up more than the double of protein interactions than WRKYs. In contrast, an enrichment of the WRKY DNA-binding motifs can be found in WRKY promoters, a phenomenon which is not observed for the bZIP family. Thus, the two TF families follow two different functional strategies in which WRKYs regulate each other’s transcription in a transcriptional network whereas bZIP action relies on intensive heterodimerization. PMID:24817872

  9. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

    PubMed Central

    Marduel, Marie; Ouguerram, Khadija; Serre, Valérie; Bonnefont-Rousselot, Dominique; Marques-Pinheiro, Alice; Berge, Knut Erik; Devillers, Martine; Luc, Gérald; Lecerf, Jean-Michel; Tosolini, Laurent; Erlich, Danièle; Peloso, Gina M.; Stitziel, Nathan; Nitchké, Patrick; Jaïs, Jean-Philippe; Abifadel, Marianne; Kathiresan, Sekar; Leren, Trond Paul; Rabès, Jean-Pierre; Boileau, Catherine; Varret, Mathilde

    2013-01-01

    Apo E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal Dominant Hypercholesterolemia (ADH), due to mutations in the LDLR, APOB or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to high levels of low-density lipoproteins (LDL). We now report an exceptionally large family including 14 members with ADH. Through genome wide mapping, analysis of regional/functional candidate genes and whole exome sequencing, we identified a mutation in the APOE gene, p.Leu167del previously reported associated with sea-blue histiocytosis and familial combined hyperlipidemia. We confirmed the involvement of the APOE p.Leu167del in ADH, with (1) a predicted destabilization of an alpha-helix in the binding domain; (2) a decreased apo E level in LDL; and (3) a decreased catabolism of LDL. Our results show that mutations in the APOE gene can be associated with bona fide ADH. PMID:22949395

  10. Maternal intrusiveness, family financial means, and anxiety across childhood in a large multiphase sample of community youth

    PubMed Central

    Cooper-Vince, Christine E.; Pincus, Donna B.; Comer, Jonathan S.

    2013-01-01

    Intrusive parenting has been positively associated with child anxiety, although examinations of this relationship to date have been largely confined to middle to upper middle class families and have rarely used longitudinal designs. With several leading interventions for child anxiety emphasizing the reduction of parental intrusiveness, it is critical to determine whether the links between parental intrusiveness and child anxiety broadly apply to families of all financial means, and whether parental intrusiveness prospectively predicts the development of child anxiety. This study employed latent growth curve analysis to evaluate the interactive effects of maternal intrusiveness and financial means on the developmental trajectory of child anxiety from 1st grade to age 15 in 1,121 children (50.7% male) and their parents from the NICHD SECCYD. The overall model was found to provide good fit, revealing that early maternal intrusiveness and financial means did not impact individual trajectories of change in child anxiety, which were stable from 1st to 5th grade, and then decrease from 5th grade to age 15. Cross-sectional analyses also examined whether family financial means moderated contemporaneous relationships between maternal intrusiveness and child anxiety in 3rd and 5th grades. The relationship between maternal intrusiveness and child anxiety was moderated by family financial means for 1st graders, with stronger links found among children of lower family financial means, but not for 3rd and 5th graders. Neither maternal intrusiveness nor financial means in 1st grade predicted subsequent changes in anxiety across childhood. Findings help elucidate for whom and when maternal intrusiveness has the greatest link with child anxiety and can inform targeted treatment efforts. PMID:23929005

  11. Large distribution and high sequence identity of a Copia-type retrotransposon in angiosperm families.

    PubMed

    Dias, Elaine Silva; Hatt, Clémence; Hamon, Serge; Hamon, Perla; Rigoreau, Michel; Crouzillat, Dominique; Carareto, Claudia Marcia Aparecida; de Kochko, Alexandre; Guyot, Romain

    2015-09-01

    Retrotransposons are the main component of plant genomes. Recent studies have revealed the complexity of their evolutionary dynamics. Here, we have identified Copia25 in Coffea canephora, a new plant retrotransposon belonging to the Ty1-Copia superfamily. In the Coffea genomes analyzed, Copia25 is present in relatively low copy numbers and transcribed. Similarity sequence searches and PCR analyses show that this retrotransposon with LTRs (Long Terminal Repeats) is widely distributed among the Rubiaceae family and that it is also present in other distantly related species belonging to Asterids, Rosids and monocots. A particular situation is the high sequence identity found between the Copia25 sequences of Musa, a monocot, and Ixora, a dicot species (Rubiaceae). Our results reveal the complexity of the evolutionary dynamics of the ancient element Copia25 in angiosperm, involving several processes including sequence conservation, rapid turnover, stochastic losses and horizontal transfer. PMID:26245353

  12. Hereditary Sensory Autonomic Neuropathy II, a rare disease in a large Pakistani family.

    PubMed

    Arain, Fazal Manzoor; Chand, Prem

    2015-10-01

    Hereditary Sensory Autonomic Neuropathy II (HSAN II) is a rare genetic disorder, characterized by severe loss of pain, temperature and touch sensation. Injuries in these patients can progress to necrosis and shedding of digits and limbs. Here we report two cases of HSAN II belonging to a Pakistani family. Individual 1, a forty five year old man, had complete loss of pain sensation since birth. Self-mutilation and complication of injuries resulted in the shedding of all the digits and right foot and surgical amputation of left leg. Individual 2, a five year old girl,had delay in healing of wounds and self-mutilation. Examination showed a complete lack of pain sensation throughout her body and hyporeflexia. As the genetic cause of HSAN II is unknown, identification of more patients will allow further research on this disease and possibly develop a cure. PMID:26440849

  13. Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

    PubMed Central

    Mistry, Vanisha; Bockett, Nicholas A.; Levine, Adam P.; Mirza, Muddassar M.; Hunt, Karen A.; Ciclitira, Paul J.; Hummerich, Holger; Neuhausen, Susan L.; Simpson, Michael A.; Plagnol, Vincent; van Heel, David A.

    2015-01-01

    Coeliac disease (CeD) is a highly heritable common autoimmune disease involving chronic small intestinal inflammation in response to dietary wheat. The human leukocyte antigen (HLA) region, and 40 newer regions identified by genome wide association studies (GWAS) and dense fine mapping, account for ∼40% of the disease heritability. We hypothesized that in pedigrees with multiple individuals with CeD rare [minor allele frequency (MAF) <0.5%] mutations of larger effect size (odds ratios of ∼ 2–5) might exist. We sequenced the exomes of 75 coeliac individuals of European ancestry from 55 multiply affected families. We selected interesting variants and genes for further follow up using a combination of: an assessment of shared variants between related subjects, a model-free linkage test, and gene burden tests for multiple, potentially causal, variants. We next performed highly multiplexed amplicon resequencing of all RefSeq exons from 24 candidate genes selected on the basis of the exome sequencing data in 2,248 unrelated coeliac cases and 2,230 controls. 1,335 variants with a 99.9% genotyping call rate were observed in 4,478 samples, of which 939 were present in coding regions of 24 genes (Ti/Tv 2.99). 91.7% of coding variants were rare (MAF <0.5%) and 60% were novel. Gene burden tests performed on rare functional variants identified no significant associations (p<1×10−3) in the resequenced candidate genes. Our strategy of sequencing multiply affected families with deep follow up of candidate genes has not identified any new CeD risk mutations. PMID:25635822

  14. Age distribution of human gene families shows significant roles of both large- and small-scale duplications in vertebrate evolution.

    PubMed

    Gu, Xun; Wang, Yufeng; Gu, Jianying

    2002-06-01

    The classical (two-round) hypothesis of vertebrate genome duplication proposes two successive whole-genome duplication(s) (polyploidizations) predating the origin of fishes, a view now being seriously challenged. As the debate largely concerns the relative merits of the 'big-bang mode' theory (large-scale duplication) and the 'continuous mode' theory (constant creation by small-scale duplications), we tested whether a significant proportion of paralogous genes in the contemporary human genome was indeed generated in the early stage of vertebrate evolution. After an extensive search of major databases, we dated 1,739 gene duplication events from the phylogenetic analysis of 749 vertebrate gene families. We found a pattern characterized by two waves (I, II) and an ancient component. Wave I represents a recent gene family expansion by tandem or segmental duplications, whereas wave II, a rapid paralogous gene increase in the early stage of vertebrate evolution, supports the idea of genome duplication(s) (the big-bang mode). Further analysis indicated that large- and small-scale gene duplications both make a significant contribution during the early stage of vertebrate evolution to build the current hierarchy of the human proteome. PMID:12032571

  15. Swedish malpractice reports and convictions.

    PubMed

    Kriisa, M

    1990-01-01

    The Swedish system, with the Board of Health and Welfare as supervisor, and Medical Board of Responsibility gives both authorities and patients the opportunity to file reports demanding disciplinary action where an error is perceived to have been committed. A total of 184 primary care complaints, involving 230 staff of which 170 were physicians and 42 nurses, were reviewed. Complaints were made by patients or parents in 73% and by the Board of Health in 14%. Handling took up to 4 years. Erroneous or delayed diagnosis was the cause in 58%, erroneous medication in 11%, rudeness in 14%. Of the 230 staff reported, 23 received warnings and 19 reprimands. PMID:1983253

  16. Care of the Dying: A Swedish Perspective

    ERIC Educational Resources Information Center

    Feigenberg, Loma; Fulton, Robert

    1977-01-01

    This article illustrates various aspects of terminal care, and shows that rules and norms for such care do not exist today. The authors advocate the formulation of an aim for humane treatment of dying patients, and its application in a manner appropriate to Swedish medical concepts and Swedish conditions. (Author)

  17. English and Swedish in CLIL Student Texts

    ERIC Educational Resources Information Center

    Falk, Maria Lim

    2015-01-01

    This study investigates Swedish students' ability to produce the discourse of the subject history, in a situation where they had to demonstrate historical knowledge in written explanations, and where both English and Swedish are involved. The students attend a content and language integrated learning (CLIL) programme at the upper secondary school…

  18. Crystal structure of a disulfide-linked "trefoil" motif found in a large family of putative growth factors.

    PubMed Central

    De, A; Brown, D G; Gorman, M A; Carr, M; Sanderson, M R; Freemont, P S

    1994-01-01

    Porcine pancreatic spasmolytic polypeptide (PSP) belongs to a large family of homologous growth factor-like polypeptides characterized by a disulfide-linked "trefoil motif," duplicated and conserved in various family members. PSP contains two trefoil motifs, has several pharmacological actions on the gut, and has growth factor properties on epithelial cells in vitro. The human PSP analogue, human spasmolytic polypeptide, appears to be involved in many regenerative situations and, especially, in healing gastrointestinal ulcers. One member of the trefoil family, pS2, is secreted in approximately 50% of estrogen-dependent human breast carcinomas, which has led to its use as a tumor prognostic marker. Both pS2 and human spasmolytic polypeptide are also widely expressed in chronic gastrointestinal ulcerative conditions such as Crohn disease. Here we report the three-dimensional structure at 2.6-A resolution of a trefoil-containing protein, namely PSP, purified from porcine pancreas. The structure shows two homologous domains that share a supersecondary structure and disulfide bond pattern. The two domains pack asymmetrically giving rise to a number of protruding loops, exposed clefts, and an unusual electrostatic surface potential. Knowledge of the structure of PSP should allow the design of mutants to investigate further the function of PSP and other trefoil-containing peptides. Images PMID:8302836

  19. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

    PubMed

    Vogel, Markus; Velleuer, Eunike; Schmidt-Jiménez, Leon F; Mayatepek, Ertan; Borkhardt, Arndt; Alawi, Malik; Kutsche, Kerstin; Kortüm, Fanny

    2016-07-01

    Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21-q22 (HCFP1) and a second to 10q21.3-q22.1 (HCFP2). The only known causative gene for HCFP is HOXB1 (17q21; HCFP3), encoding a homeodomain-containing transcription factor of the HOX gene family, which are master regulators of early developmental processes. The previously reported HOXB1 mutations change arginine 207 to another residue in the homeodomain and alter binding capacity of HOXB1 for transcriptional co-regulators and DNA. We performed whole exome sequencing in HCFP-affected individuals of a large consanguineous Moroccan family. The homozygous nonsense variant c.66C>G/p.(Tyr22*) in HOXB1 was identified in the four patients with HCFP and ear malformations, while healthy family members carried the mutation in the heterozygous state. This is the first disease-associated HOXB1 mutation with a likely loss-of-function effect suggesting that all HOXB1 variants reported so far also have severe impact on activity of this transcriptional regulator. © 2016 Wiley Periodicals, Inc. PMID:27144914

  20. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion

    SciTech Connect

    Shashi, V.; Golden, W.L.; Allinson, P.S.

    1996-06-01

    It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion. 50 refs., 7 figs., 1 tab.

  1. A large family of Dscam genes with tandemly arrayed 5' cassettes in Chelicerata.

    PubMed

    Yue, Yuan; Meng, Yijun; Ma, Hongru; Hou, Shouqing; Cao, Guozheng; Hong, Weiling; Shi, Yang; Guo, Pengjuan; Liu, Baoping; Shi, Feng; Yang, Yun; Jin, Yongfeng

    2016-01-01

    Drosophila Dscam1 (Down Syndrome Cell Adhesion Molecules) and vertebrate clustered protocadherins (Pcdhs) are two classic examples of the extraordinary isoform diversity from a single genomic locus. Dscam1 encodes 38,016 distinct isoforms via mutually exclusive splicing in D. melanogaster, while the vertebrate clustered Pcdhs utilize alternative promoters to generate isoform diversity. Here we reveal a shortened Dscam gene family with tandemly arrayed 5' cassettes in Chelicerata. These cassette repeats generally comprise two or four exons, corresponding to variable Immunoglobulin 7 (Ig7) or Ig7-8 domains of Drosophila Dscam1. Furthermore, extraordinary isoform diversity has been generated through a combination of alternating promoter and alternative splicing. These sDscams have a high sequence similarity with Drosophila Dscam1, and share striking organizational resemblance to the 5' variable regions of vertebrate clustered Pcdhs. Hence, our findings have important implications for understanding the functional similarities between Drosophila Dscam1 and vertebrate Pcdhs, and may provide further mechanistic insights into the regulation of isoform diversity. PMID:27080167

  2. A large family of Dscam genes with tandemly arrayed 5′ cassettes in Chelicerata

    PubMed Central

    Yue, Yuan; Meng, Yijun; Ma, Hongru; Hou, Shouqing; Cao, Guozheng; Hong, Weiling; Shi, Yang; Guo, Pengjuan; Liu, Baoping; Shi, Feng; Yang, Yun; Jin, Yongfeng

    2016-01-01

    Drosophila Dscam1 (Down Syndrome Cell Adhesion Molecules) and vertebrate clustered protocadherins (Pcdhs) are two classic examples of the extraordinary isoform diversity from a single genomic locus. Dscam1 encodes 38,016 distinct isoforms via mutually exclusive splicing in D. melanogaster, while the vertebrate clustered Pcdhs utilize alternative promoters to generate isoform diversity. Here we reveal a shortened Dscam gene family with tandemly arrayed 5′ cassettes in Chelicerata. These cassette repeats generally comprise two or four exons, corresponding to variable Immunoglobulin 7 (Ig7) or Ig7–8 domains of Drosophila Dscam1. Furthermore, extraordinary isoform diversity has been generated through a combination of alternating promoter and alternative splicing. These sDscams have a high sequence similarity with Drosophila Dscam1, and share striking organizational resemblance to the 5′ variable regions of vertebrate clustered Pcdhs. Hence, our findings have important implications for understanding the functional similarities between Drosophila Dscam1 and vertebrate Pcdhs, and may provide further mechanistic insights into the regulation of isoform diversity. PMID:27080167

  3. Computational Analysis of Looping of a Large Family of Highly Bent DNA by LacI

    PubMed Central

    Lillian, Todd D.; Goyal, Sachin; Kahn, Jason D.; Meyhöfer, Edgar; Perkins, N. C.

    2008-01-01

    Sequence-dependent intrinsic curvature of DNA influences looping by regulatory proteins such as LacI and NtrC. Curvature can enhance stability and control shape, as observed in LacI loops formed with three designed sequences with operators bracketing an A-tract bend. We explore geometric, topological, and energetic effects of curvature with an analysis of a family of highly bent sequences, using the elastic rod model from previous work. A unifying straight-helical-straight representation uses two phasing parameters to describe sequences composed of two straight segments that flank a common helically supercoiled segment. We exercise the rod model over this two-dimensional space of phasing parameters to evaluate looping behaviors. This design space is found to comprise two subspaces that prefer parallel versus anti-parallel binding topologies. The energetic cost of looping varies from 4 to 12 kT. Molecules can be designed to yield distinct binding topologies as well as hyperstable or hypostable loops and potentially loops that can switch conformations. Loop switching could be a mechanism for control of gene expression. Model predictions for linking numbers and sizes of LacI-DNA loops can be tested using multiple experimental approaches, which coupled with theory could address whether proteins or DNA provide the observed flexibility of protein-DNA loops. PMID:18931251

  4. Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family

    PubMed Central

    Vincent, Andrea L.; Carroll, Joseph; Fishman, Gerald A.; Sauer, Alexandra; Sharp, Dianne; Summerfelt, Phyllis; Williams, Vesper; Dubis, Adam M.; Kohl, Susanne; Wong, Fulton

    2013-01-01

    Purpose To ascertain the potential pathogenicity of a retinitis pigmentosa (RP)-causing RHO F45L allele in a family affected by congenital achromatopsia (ACHM). Methods Case series/observational study that included two patients with ACHM and 24 extended family members. Molecular genetic analysis was performed to identify RHO F45L carrier status in the family and a control population. An adaptive optics scanning light ophthalmoscope (AOSLO) was used to image the photoreceptor mosaic and assess rod and cone structure. Spectral domain optical coherence tomography (SD-OCT) was used to examine retinal lamination. Comprehensive clinical testing included acuity, color vision, and dilated fundus examination. Electroretinography was used to assess rod and cone function. Results Five carriers of the RHO F45L allele alone (24–80 years) and three carriers in combination with a heterozygous CNGA3 mutant allele (10–64 years) were all free of the classic symptoms and signs of RP. In heterozygous carriers of both mutations, SD-OCT showed normal retinal thickness and intact outer retinal layers; rod and cone densities were within normal limits on AOSLO. The phenotype in two individuals affected with ACHM and harboring the RHO F45L allele was indistinguishable from that previously reported for ACHM. Conclusions The RHO F45L allele is not pathogenic in this large family; hence, the two ACHM patients would unlikely develop RP in the future. Translational Relevance The combined approach of comprehensive molecular analysis of individual genomes and noninvasive cellular resolution retinal imaging enhances the current repertoire of clinical diagnostic tools, giving a substantial impetus to personalized medicine. PMID:24049715

  5. A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.

    PubMed

    Szczepanski, Sandra; Hussain, Muhammad Sajid; Sur, Ilknur; Altmüller, Janine; Thiele, Holger; Abdullah, Uzma; Waseem, Syeda Seema; Moawia, Abubakar; Nürnberg, Gudrun; Noegel, Angelika Anna; Baig, Shahid Mahmood; Nürnberg, Peter

    2016-02-01

    Primary microcephaly is a disorder characterized by a small head and brain associated with impaired cognitive capabilities. Mutations in 13 different genes encoding centrosomal proteins and cell cycle regulators have been reported to cause the disease. CASC5, a gene encoding a protein important for kinetochore formation and proper chromosome segregation during mitosis, has been suggested to be associated with primary microcephaly-4 (MCPH4). This was based on one mutation only and circumstantial functional evidence. By combining homozygosity mapping and whole-exome sequencing in an MCPH family from Pakistan, we identified a second mutation (NM_170589.4;c.6673-19T>A) in CASC5. This mutation induced skipping of exon 25 of CASC5 resulting in a frameshift and the introduction of a premature stop codon (p.Met2225Ilefs*7). The C-terminally truncated protein lacks 118 amino acids that encompass the region responsible for the interaction with the hMIS12 complex, which is essential for proper chromosome alignment and segregation. Furthermore, we showed a down-regulation of CASC5 mRNA and reduction of the amount of CASC5 protein by quantitative RT-PCR and western blot analysis, respectively. As a further sign of functional deficits, we observed dispersed dots of CASC5 immunoreactive material outside the metaphase plate of dividing patient fibroblasts. Normally, CASC5 is a component of the kinetochore of metaphase chromosomes. A higher mitotic index in patient cells indicated a mitotic arrest in the cells carrying the mutation. We also observed lobulated and fragmented nuclei as well as micronuclei in the patient cells. Moreover, we detected an altered DNA damage response with higher levels of γH2AX and 53BP1 in mutant as compared to control fibroblasts. Our findings substantiate the proposed role of CASC5 for primary microcephaly and suggest that it also might be relevant for genome stability. PMID:26621532

  6. Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm

    PubMed Central

    Ellerman, Diego A; Pei, Jimin; Gupta, Surabhi; Snell, William J; Myles, Diana; Primakoff, Paul

    2013-01-01

    SUMMARY Izumo, a sperm membrane protein, is essential for gamete fusion in the mouse. It has an Ig (Immunoglobulin) domain and an N-terminal domain for which neither the functions nor homologous sequences are known. In the present work we identified three novel proteins showing an N-terminal domain with significant homology to the N-terminal domain of Izumo. We named this region "Izumo domain", and the novel proteins “Izumo 2”,”Izumo 3” and “Izumo 4”, retaining “Izumo 1” for the first described member of the family. Izumo 1, 2 and 3 are transmembrane proteins expressed specifically in the testis, and Izumo 4 is a soluble protein expressed in the testis and in other tissues. Electrophoresis under mildly denaturing conditions, followed by Western blot analysis, showed that Izumo 1, 3 and 4 formed protein complexes on sperm, Izumo 1 forming several larger complexes and Izumo 3 and 4 forming a single larger complex. Studies using different recombinant Izumo constructs suggested the Izumo domain possesses the ability to form dimers, whereas the transmembrane domain or the cytoplasmic domain or both of Izumo 1 are required for the formation of multimers of higher order. Co-immunoprecipitation studies showed the presence of other sperm proteins associated with Izumo-1, suggesting Izumo 1 forms a multi-protein membrane complex. Our results raise the possibility that Izumo 1 might be involved in organizing or stabilizing a multi-protein complex essential for the function of the membrane fusion machinery. PMID:19658160

  7. Evolutionary expansion and divergence in a large family of primate-specific zinc finger transcription factor genes

    SciTech Connect

    Hamilton, A T; Huntley, S; Tran-Gyamfi, M; Baggott, D; Gordon, L; Stubbs, L

    2005-09-28

    Although most genes are conserved as one-to-one orthologs in different mammalian orders, certain gene families have evolved to comprise different numbers and types of protein-coding genes through independent series of gene duplications, divergence and gene loss in each evolutionary lineage. One such family encodes KRAB-zinc finger (KRAB-ZNF) genes, which are likely to function as transcriptional repressors. One KRAB-ZNF subfamily, the ZNF91 clade, has expanded specifically in primates to comprise more than 110 loci in the human genome, yielding large gene clusters in human chromosomes 19 and 7 and smaller clusters or isolated copies at other chromosomal locations. Although phylogenetic analysis indicates that many of these genes arose before the split between old world monkeys and new world monkeys, the ZNF91 subfamily has continued to expand and diversify throughout the evolution of apes and humans. The paralogous loci are distinguished by sequence divergence within their zinc finger arrays indicating a selection for proteins with different DNA binding specificities. RT-PCR and in situ hybridization data show that some of these ZNF genes can have tissue-specific expression patterns, however many KRAB-ZNFs that are near-ubiquitous could also be playing very specific roles in halting target pathways in all tissues except for a few, where the target is released by the absence of its repressor. The number of variant KRAB-ZNF proteins is increased not only because of the large number of loci, but also because many loci can produce multiple splice variants, which because of the modular structure of these genes may have separate and perhaps even conflicting regulatory roles. The lineage-specific duplication and rapid divergence of this family of transcription factor genes suggests a role in determining species-specific biological differences and the evolution of novel primate traits.

  8. Avoiding the pitfalls of adaptive management implementation in Swedish silviculture.

    PubMed

    Rist, Lucy; Felton, Adam; Mårald, Erland; Samuelsson, Lars; Lundmark, Tomas; Rosvall, Ola

    2016-02-01

    There is a growing demand for alternatives to Sweden's current dominant silvicultural system, driven by a desire to raise biomass production, meet environmental goals and mitigate climate change. However, moving towards diversified forest management that deviates from well established silvicultural practices carries many uncertainties and risks. Adaptive management is often suggested as an effective means of managing in the context of such complexities. Yet there has been scepticism over its appropriateness in cases characterised by large spatial extents, extended temporal scales and complex land ownership-characteristics typical of Swedish forestry. Drawing on published research, including a new paradigm for adaptive management, we indicate how common pitfalls can be avoided during implementation. We indicate the investment, infrastructure, and considerations necessary to benefit from adaptive management. In doing so, we show how this approach could offer a pragmatic operational model for managing the uncertainties, risks and obstacles associated with new silvicultural systems and the challenges facing Swedish forestry. PMID:26744049

  9. R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family

    PubMed Central

    Korvatska, Olena; Leverenz, James B.; Jayadev, Suman; McMillan, Pamela; Kurtz, Irina; Guo, Xindi; Rumbaugh, Malia; Matsushita, Mark; Girirajan, Santhosh; Dorschner, Michael O.; Kiianitsa, Kostantin; Yu, Chang-En; Brkanac, Zoran; Garden, Gwenn A.; Raskind, Wendy H.; Bird, Thomas D.

    2016-01-01

    Importance The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. Objective To investigate a large family with late-onset AD (LOAD), in which R47H cosegregated with 75% of cases. Design, Setting, and Participants This study includes genetic and pathologic studies of families with LOAD from 1985 to 2014. A total of 131 families with LOAD (751 individuals) were included from the University of Washington Alzheimer Disease Research Center. To identify LOAD genes/risk factors in the LOAD123 family with 21 affected members and 12 autopsies, we sequenced 4 exomes. Candidate variants were tested for cosegregation with the disease. TREM2 R47H was genotyped in an additional 130 families with LOAD. We performed clinical and neuropathological assessments of patients with and without R47H and evaluated the variant's effect on brain pathology, cellular morphology, and expression of microglial markers. Main Outcomes and Measures We assessed the effect of TREM2 genotype on age at onset and disease duration. We compared Braak and Consortium to Establish a Registry for Alzheimer's Disease scores, presence of α-synuclein and TAR DNA-binding protein 43 aggregates, and additional vascular or Parkinson pathology in TREM2 R47H carriers vs noncarriers. Microglial activation was assessed by quantitative immunohistochemistry and morphometry. Results Twelve of 16 patients with AD in the LOAD123 family carried R47H. Eleven patients with dementia had apolipoprotein E 4 (ApoE4) and R47H genotypes. We also found a rare missense variant, D353N, in a nominated AD risk gene, unc-5 homolog C (UNC5C), in 5 affected individuals in the LOAD123 family. R47H carriers demonstrated a shortened disease duration (mean [SD], 6.7 [2.8] vs 11.1 [6.6] years; 2-tailed t test; P = .04) and more frequent α-synucleinopathy. The

  10. Protein-bound molecules: a large family with a bad character.

    PubMed

    Sirich, Tammy L; Meyer, Timothy W; Gondouin, Bertrand; Brunet, Philippe; Niwa, Toshimitsu

    2014-03-01

    Many small solutes excreted by the kidney are bound to plasma proteins, chiefly albumin, in the circulation. The combination of protein binding and tubular secretion allows the kidney to reduce the free, unbound concentrations of such solutes to lower levels than could be obtained by tubular secretion alone. Protein-bound solutes accumulate in the plasma when the kidneys fail, and the free, unbound levels of these solutes increase more than their total plasma levels owing to competition for binding sites on plasma proteins. Given the efficiency by which the kidney can clear protein-bound solutes, it is tempting to speculate that some compounds in this class are important uremic toxins. Studies to date have focused largely on two specific protein-bound solutes: indoxyl sulfate and p-cresyl sulfate. The largest body of evidence suggests that both of these compounds contribute to cardiovascular disease, and that indoxyl sulfate contributes to the progression of chronic kidney disease. Other protein-bound solutes have been investigated to a much lesser extent, and could in the future prove to be even more important uremic toxins. PMID:24780467

  11. p300 family members associate with the carboxyl terminus of simian virus 40 large tumor antigen.

    PubMed Central

    Lill, N L; Tevethia, M J; Eckner, R; Livingston, D M; Modjtahedi, N

    1997-01-01

    Several cellular polypeptides critical for growth regulation interact with DNA tumor virus oncoproteins. p400 is a cellular protein which binds to the adenovirus E1A oncoprotein(s). The biological function of p400 is not yet known, but it is structurally and immunologically closely related to p300 and CREB-binding protein, two known E1A-binding transcription adapters. Like p300, p400 is a phosphoprotein that binds to the simian virus 40 large tumor antigen (T). In anti-T coimmunoprecipitation experiments, staggered deletions spanning the amino-terminal 250 amino acids of T did not abrogate T binding to either p400 or p300. A T species composed of residues 251 to 708 bound both p400 and p300, while a T species defective in p53 binding was unable to bind either detectably. Anti-p53 immunoprecipitates prepared from cells containing wild-type T also contained p400 and p300. Hence, both p400 and p300 can bind (directly or indirectly) to a carboxyl-terminal fragment of T which contains its p53 binding domain. Since the p53 binding domain of T contributes to its immortalizing and transforming activities, T-p400 and/or T-p300 interactions may participate in these functions. PMID:8985331

  12. Lipid transfer particle from the silkworm, Bombyx mori, is a novel member of the apoB/large lipid transfer protein family[S

    PubMed Central

    Yokoyama, Hiroshi; Yokoyama, Takeru; Yuasa, Masashi; Fujimoto, Hirofumi; Sakudoh, Takashi; Honda, Naoko; Fugo, Hajime; Tsuchida, Kozo

    2013-01-01

    Lipid transfer particle (LTP) is a high-molecular-weight, very high-density lipoprotein known to catalyze the transfer of lipids between a variety of lipoproteins, including both insects and vertebrates. Studying the biosynthesis and regulation pathways of LTP in detail has not been possible due to a lack of information regarding the apoproteins. Here, we sequenced the cDNA and deduced amino acid sequences for three apoproteins of LTP from the silkworm (Bombyx mori). The three subunit proteins of the LTP are coded by two genes, apoLTP-II/I and apoLTP-III. ApoLTP-I and apoLTP-II are predicted to be generated by posttranslational cleavage of the precursor protein, apoLTP-II/I. Clusters of amphipathic secondary structure within apoLTP-II/I are similar to Homo sapiens apolipoprotein B (apoB) and insect lipophorins. The apoLTP-II/I gene is a novel member of the apoB/large lipid transfer protein gene family. ApoLTP-III has a putative conserved juvenile hormone-binding protein superfamily domain. Expression of apoLTP-II/I and apoLTP-III genes was synchronized and both genes were primarily expressed in the fat body at the stage corresponding to increased lipid transport needs. We are now in a position to study in detail the physiological role of LTP and its biosynthesis and assembly. PMID:23812557

  13. A global assessment of a large monocot family highlights the need for group-specific analyses of invasiveness.

    PubMed

    Moodley, Desika; Procheş, Şerban; Wilson, John R U

    2016-01-01

    Significant progress has been made in understanding biological invasions recently, and one of the key findings is that the determinants of naturalization and invasion success vary from group to group. Here, we explore this variation for one of the largest plant families in the world, the Araceae. This group provides an excellent opportunity for identifying determinants of invasiveness in herbaceous plants, since it is one of the families most popular with horticulturalists, with species occupying various habitats and comprising many different life forms. We first developed a checklist of 3494 species of Araceae using online databases and literature sources. We aimed to determine whether invasiveness across the introduction-naturalization-invasion continuum is associated to particular traits within the family, and whether analyses focussed on specific life forms can reveal any mechanistic correlates. Boosted regression tree models were based on species invasion statuses as the response variables, and traits associated with human use, biological characteristics and distribution as the explanatory variables. The models indicate that biological traits such as plant life form and pollinator type are consistently strong correlates of invasiveness. Additionally, large-scale correlates such as the number of native floristic regions and number of introduced regions are also influential at particular stages in the invasion continuum. We used these traits to build a phenogram showing groups defined by the similarity of characters. We identified nine groups that have a greater tendency to invasiveness (includingAlocasia, the Lemnoideae andEpipremnum). From this, we propose a list of species that are not currently invasive for which we would recommend a precautionary approach to be taken. The successful management of plant invasions will depend on understanding such context-dependent effects across taxonomic groups, and across the different stages of the invasion process. PMID

  14. A global assessment of a large monocot family highlights the need for group-specific analyses of invasiveness

    PubMed Central

    Moodley, Desika; Procheş, Şerban; Wilson, John R. U.

    2016-01-01

    Significant progress has been made in understanding biological invasions recently, and one of the key findings is that the determinants of naturalization and invasion success vary from group to group. Here, we explore this variation for one of the largest plant families in the world, the Araceae. This group provides an excellent opportunity for identifying determinants of invasiveness in herbaceous plants, since it is one of the families most popular with horticulturalists, with species occupying various habitats and comprising many different life forms. We first developed a checklist of 3494 species of Araceae using online databases and literature sources. We aimed to determine whether invasiveness across the introduction–naturalization–invasion continuum is associated to particular traits within the family, and whether analyses focussed on specific life forms can reveal any mechanistic correlates. Boosted regression tree models were based on species invasion statuses as the response variables, and traits associated with human use, biological characteristics and distribution as the explanatory variables. The models indicate that biological traits such as plant life form and pollinator type are consistently strong correlates of invasiveness. Additionally, large-scale correlates such as the number of native floristic regions and number of introduced regions are also influential at particular stages in the invasion continuum. We used these traits to build a phenogram showing groups defined by the similarity of characters. We identified nine groups that have a greater tendency to invasiveness (including Alocasia, the Lemnoideae and Epipremnum). From this, we propose a list of species that are not currently invasive for which we would recommend a precautionary approach to be taken. The successful management of plant invasions will depend on understanding such context-dependent effects across taxonomic groups, and across the different stages of the invasion process

  15. SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia

    PubMed Central

    Marelli, Cecilia; van de Leemput, Joyce; Johnson, Janel O; Tison, Francois; Thauvin-Robinet, Christel; Picard, Fabienne; Tranchant, Christine; Hernandez, Dena G; Huttin, Bernard; Boulliat, Jacques; Sangla, Iban; Marescaux, Christian; Brique, Serge; Dollfus, Hélène; Arepalli, Sampath; Benatru, Isabelle; Ollagnon, Elisabeth; Forlani, Sylvie; Hardy, John; Stevanin, Giovanni; Dürr, Alexandra; Singleton, Andrew; Brice, Alexis

    2011-01-01

    Objectives to determine the frequency and the phenotypical spectrum of SCA15 patients. Methods in the index cases of 333 families with autosomal dominant cerebellar ataxia (ADCA) negative for CAG repeat expansions in coding exons (SCA1,2,3,6,7,17 and dentatorubropallidoluysian atrophy), we searched for heterozygous rearrangements in ITPR1. Taqman PCR (258 index cases) or SNP genome-wide genotyping (75 index cases) were used. Results a deletion of ITPR1 was found in 6/333 (1.8%) families, corresponding to 13 SCA15 patients. Age at onset ranged from 18 to 66 years with a mean of 35±16 years. The symptom at onset was mainly cerebellar gait ataxia, except for one patient presenting with isolated upper limb tremor. Although we tested a large cohort of families irrespective of their phenotype, the main clinical features of SCA15 patients were homogeneous and characterized by a very slowly progressive gait and limb cerebellar ataxia with dysarthria. However, pyramidal signs (two patients), and mild cognitive problems (two patients) were occasionally present. Ocular alterations consisted of nystagmus, mainly horizontal and gaze-evoked (ten patients), and saccadic pursuit (seven patients). Radiological findings showed global or predominant vermian cerebellar atrophy in all patients. Conclusions In this series ITPR1 deletions are rare and account for ~1% of all ADCA. The SCA15 phenotype mostly consists of a slowly progressive isolated cerebellar ataxia with variable age at onset; an additional pyramidal syndrome and problems in executive functions may be present in a minority of patients. PMID:21555639

  16. A large family of antivirulence regulators modulates the effects of transcriptional activators in Gram-negative pathogenic bacteria.

    PubMed

    Santiago, Araceli E; Ruiz-Perez, Fernando; Jo, Noah Y; Vijayakumar, Vidhya; Gong, Mei Q; Nataro, James P

    2014-05-01

    We have reported that transcription of a hypothetical small open reading frame (orf60) in enteroaggregative E. coli (EAEC) strain 042 is impaired after mutation of aggR, which encodes a global virulence activator. We have also reported that the cryptic orf60 locus was linked to protection against EAEC diarrhea in two epidemiologic studies. Here, we report that the orf60 product acts as a negative regulator of aggR itself. The orf60 protein product lacks homology to known repressors, but displays 44-100% similarity to at least fifty previously undescribed small (<10 kDa) hypothetical proteins found in many gram negative pathogen genomes. Expression of orf60 homologs from enterotoxigenic E. coli (ETEC) repressed the expression of the AraC-transcriptional ETEC regulator CfaD/Rns and its regulon in ETEC strain H10407. Complementation in trans of EAEC 042orf60 by orf60 homologs from ETEC and the mouse pathogen Citrobacter rodentium resulted in dramatic suppression of aggR. A C. rodentium orf60 homolog mutant showed increased levels of activator RegA and increased colonization of the adult mouse. We propose the name Aar (AggR-activated regulator) for the clinically and epidemiologically important orf60 product in EAEC, and postulate the existence of a large family of homologs among pathogenic Enterobacteriaceae and Pasteurellaceae. We propose the name ANR (AraC Negative Regulators) for this family. PMID:24875828

  17. A Large Family of Antivirulence Regulators Modulates the Effects of Transcriptional Activators in Gram-negative Pathogenic Bacteria

    PubMed Central

    Santiago, Araceli E.; Ruiz-Perez, Fernando; Jo, Noah Y.; Vijayakumar, Vidhya; Gong, Mei Q.; Nataro, James P.

    2014-01-01

    We have reported that transcription of a hypothetical small open reading frame (orf60) in enteroaggregative E. coli (EAEC) strain 042 is impaired after mutation of aggR, which encodes a global virulence activator. We have also reported that the cryptic orf60 locus was linked to protection against EAEC diarrhea in two epidemiologic studies. Here, we report that the orf60 product acts as a negative regulator of aggR itself. The orf60 protein product lacks homology to known repressors, but displays 44–100% similarity to at least fifty previously undescribed small (<10 kDa) hypothetical proteins found in many gram negative pathogen genomes. Expression of orf60 homologs from enterotoxigenic E. coli (ETEC) repressed the expression of the AraC-transcriptional ETEC regulator CfaD/Rns and its regulon in ETEC strain H10407. Complementation in trans of EAEC 042orf60 by orf60 homologs from ETEC and the mouse pathogen Citrobacter rodentium resulted in dramatic suppression of aggR. A C. rodentium orf60 homolog mutant showed increased levels of activator RegA and increased colonization of the adult mouse. We propose the name Aar (AggR-activated regulator) for the clinically and epidemiologically important orf60 product in EAEC, and postulate the existence of a large family of homologs among pathogenic Enterobacteriaceae and Pasteurellaceae. We propose the name ANR (AraC Negative Regulators) for this family. PMID:24875828

  18. A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

    PubMed Central

    Oda, Tetsuya; Xiong, Hui; Kobayashi, Kazuhiro; Wang, Shuo; Satake, Wataru; Jiao, Hui; Yang, Yanling; Cha, Pei-Chieng; Hayashi, Yukiko K; Nishino, Ichizo; Suzuki, Yutaka; Sugano, Sumio; Wu, Xiru; Toda, Tatsushi

    2015-01-01

    Laing distal myopathy (LDM) is an autosomal dominant myopathy that is caused by mutations in the slow/beta cardiac myosin heavy-chain (MYH7) gene. It has been recently reported that LDM presents with a wide range of clinical manifestations. We herein report a large Chinese family with autosomal dominant myopathy. The affected individuals in the family presented with foot drop in early childhood, along with progressive distal and proximal limb weakness. Their characteristic symptoms include scapular winging and scoliosis in the early disease phase and impairment of ambulation in the advanced phase. Although limb-girdle muscle dystrophy (LGMD) was suspected initially, a definite diagnosis could not be reached. As such, we performed linkage analysis and detected four linkage regions, namely 1q23.2-24.1, 14q11.2-12, 15q26.2-26.3 and 17q24.3. Through subsequent whole exome sequencing, we found a de novo p.K1617del causative mutation in the MYH7 gene and diagnosed the disease as LDM. This is the first LDM case in China. Our patients have severe clinical manifestations that mimic LGMD in comparison with the patients with the same mutation reported elsewhere. PMID:27081534

  19. A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.

    PubMed

    Oda, Tetsuya; Xiong, Hui; Kobayashi, Kazuhiro; Wang, Shuo; Satake, Wataru; Jiao, Hui; Yang, Yanling; Cha, Pei-Chieng; Hayashi, Yukiko K; Nishino, Ichizo; Suzuki, Yutaka; Sugano, Sumio; Wu, Xiru; Toda, Tatsushi

    2015-01-01

    Laing distal myopathy (LDM) is an autosomal dominant myopathy that is caused by mutations in the slow/beta cardiac myosin heavy-chain (MYH7) gene. It has been recently reported that LDM presents with a wide range of clinical manifestations. We herein report a large Chinese family with autosomal dominant myopathy. The affected individuals in the family presented with foot drop in early childhood, along with progressive distal and proximal limb weakness. Their characteristic symptoms include scapular winging and scoliosis in the early disease phase and impairment of ambulation in the advanced phase. Although limb-girdle muscle dystrophy (LGMD) was suspected initially, a definite diagnosis could not be reached. As such, we performed linkage analysis and detected four linkage regions, namely 1q23.2-24.1, 14q11.2-12, 15q26.2-26.3 and 17q24.3. Through subsequent whole exome sequencing, we found a de novo p.K1617del causative mutation in the MYH7 gene and diagnosed the disease as LDM. This is the first LDM case in China. Our patients have severe clinical manifestations that mimic LGMD in comparison with the patients with the same mutation reported elsewhere. PMID:27081534

  20. The Crystal Structure of Bacteriophage HK97 gp6: Defining a Large Family of Head-Tail Connector Proteins

    SciTech Connect

    Cardarelli, Lia; Lam, Robert; Tuite, Ashleigh; Baker, Lindsay A; Sadowski, Paul D; Radford, Devon R; Rubinstein, John L; Battaile, Kevin P; Chirgadze, Nickolay; Maxwell, Karen L; Davidson, Alan R

    2010-08-17

    The final step in the morphogenesis of long-tailed double-stranded DNA bacteriophages is the joining of the DNA-filled head to the tail. The connector is a specialized structure of the head that serves as the interface for tail attachment and the point of egress for DNA from the head during infection. Here, we report the determination of a 2.1 {angstrom} crystal structure of gp6 of bacteriophage HK97. Through structural comparisons, functional studies, and bioinformatic analysis, gp6 has been determined to be a component of the connector of phage HK97 that is evolutionarily related to gp15, a well-characterized connector component of bacteriophage SPP1. Whereas the structure of gp15 was solved in a monomeric form, gp6 crystallized as an oligomeric ring with the dimensions expected for a connector protein. Although this ring is composed of 13 subunits, which does not match the symmetry of the connector within the phage, sequence conservation and modeling of this structure into the cryo-electron microscopy density of the SPP1 connector indicate that this oligomeric structure represents the arrangement of gp6 subunits within the mature phage particle. Through sequence searches and genomic position analysis, we determined that gp6 is a member of a large family of connector proteins that are present in long-tailed phages. We have also identified gp7 of HK97 as a homologue of gp16 of phage SPP1, which is the second component of the connector of this phage. These proteins are members of another large protein family involved in connector assembly.

  1. The Crystal Structure of Bacteriophage HK97 gp6: Defining a Large Family of Head-Tail Connector Proteins

    SciTech Connect

    Cardarelli, Lia; Lam, Robert; Tuite, Ashleigh; Baker, Lindsay A; Sadowski, Paul D; Radford, Devon R; Rubinstein, John L; Battaile, Kevin P; Chirgadze, Nickolay; Maxwell, Karen L; Davidson, Alan R

    2011-11-23

    The final step in the morphogenesis of long-tailed double-stranded DNA bacteriophages is the joining of the DNA-filled head to the tail. The connector is a specialized structure of the head that serves as the interface for tail attachment and the point of egress for DNA from the head during infection. Here, we report the determination of a 2.1 Å crystal structure of gp6 of bacteriophage HK97. Through structural comparisons, functional studies, and bioinformatic analysis, gp6 has been determined to be a component of the connector of phage HK97 that is evolutionarily related to gp15, a well-characterized connector component of bacteriophage SPP1. Whereas the structure of gp15 was solved in a monomeric form, gp6 crystallized as an oligomeric ring with the dimensions expected for a connector protein. Although this ring is composed of 13 subunits, which does not match the symmetry of the connector within the phage, sequence conservation and modeling of this structure into the cryo-electron microscopy density of the SPP1 connector indicate that this oligomeric structure represents the arrangement of gp6 subunits within the mature phage particle. Through sequence searches and genomic position analysis, we determined that gp6 is a member of a large family of connector proteins that are present in long-tailed phages. We have also identified gp7 of HK97 as a homologue of gp16 of phage SPP1, which is the second component of the connector of this phage. These proteins are members of another large protein family involved in connector assembly.

  2. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

    PubMed

    Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S; Corydon, Thomas J; Demontis, Ditte; Starnawska, Anna; Hedemand, Anne; Buniello, Annalisa; Niola, Francesco; Overgaard, Michael T; Leal, Suzanne M; Ahmad, Wasim; Wikman, Friedrik P; Petersen, Kirsten B; Crüger, Dorthe G; Oostrik, Jaap; Kremer, Hannie; Tommerup, Niels; Frödin, Morten; Steel, Karen P; Tranebjærg, Lisbeth; Børglum, Anders D

    2015-07-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXXФ). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment. PMID:26197441

  3. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    PubMed Central

    Nielsen, Morten S.; Corydon, Thomas J.; Demontis, Ditte; Starnawska, Anna; Hedemand, Anne; Buniello, Annalisa; Niola, Francesco; Overgaard, Michael T.; Leal, Suzanne M.; Ahmad, Wasim; Wikman, Friedrik P.; Petersen, Kirsten B.; Crüger, Dorthe G.; Oostrik, Jaap; Kremer, Hannie; Tommerup, Niels; Frödin, Morten; Steel, Karen P.; Tranebjærg, Lisbeth; Børglum, Anders D.

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXXФ). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment. PMID:26197441

  4. Ferride geochemistry of Swedish precambrian iron ores

    NASA Astrophysics Data System (ADS)

    Loberg, B. E. H.; Horndahl, A.-K.

    1983-10-01

    Chemical analysis for major and trace elements have been performed on 30 Swedish Precambrian iron ores and on some from Iran and Chile. The Swedish ores consist of apatite iron ores, quartz-banded iron ores, skarn and limestone iron ores from the two main ore districts of Sweden, the Bergslagen and the Norrbotten province. Some Swedish titaniferous iron ores were also included in the investigation. The trace element data show that the Swedish ores can be subdivided into two major groups: 1. orthomagmatic and exhalative, 2. sedimentary. Within group 1 the titaniferous iron ores are distinguished by their high Ti-contents. From the ferride contents of the Kiruna apatite iron ores, the ores are considered to be mobilization products of skarn iron ores from the Norbotten province.

  5. Suicide rate among former Swedish peacekeeping personnel.

    PubMed

    Michel, Per-Olof; Lundin, Tom; Larsson, Gerry

    2007-03-01

    Increased suicide rates for military personnel suffering from post-traumatic stress disorders have been reported in various countries. Although it is known that some peacekeepers are exposed to potentially traumatic events and are thus at risk of suffering from post-traumatic stress reactions, only a few studies have examined suicide rates in this group. Therefore, the aim of this study was to investigate the suicide rate among former Swedish peacekeeping personnel. We compared 39,768 former Swedish peacekeepers to the general population in the National General Population Registry and the Cause-of-Death Registry. A lower number of suicides was found among former Swedish peacekeepers than in the general population. In conclusion, Swedish personnel serving in international peace-keeping operations do not show a higher suicide rate than the general population. Unique problems associated with this research area are discussed. PMID:17436772

  6. "Waiting for Better Times": Experiences in the First Postpartum Year by Swedish Fathers With Depressive Symptoms.

    PubMed

    Edhborg, Maigun; Carlberg, Magdalena; Simon, Fia; Lindberg, Lene

    2016-09-01

    Swedish fathers are largely involved in their infant's care, and Sweden has a generous parental leave, with 2 months especially assigned for fathers. The prevalence of depressive symptoms postpartum for fathers appears to be similar as for mothers in Sweden. This study aimed to describe fathers' experiences of the first year postpartum, when they showed depressive symptoms 3 to 6 months postpartum. Semistructured interviews with 19 fathers were conducted and analyzed with content analysis. The fathers experienced loss of control and powerlessness due to discrepancies between their expectations and the reality they met after birth. They found the everyday-life turbulent, with much stress and worries for the infant, conflicts between family and work, and lack of support in everyday life. In addition, the fathers struggled with impaired partner-relationship, losses, and contradictory messages from both the society and their partners. These findings indicate that the fathers had difficulties to balance the competing demands of family, work, and their own needs. Thus, it is important to identify fathers with depressive symptoms at the Child Health Care Centers and attend to fathers' needs of support and acknowledge them as parents equal to mothers. PMID:25739550

  7. Large Deviations for Stationary Probabilities of a Family of Continuous Time Markov Chains via Aubry-Mather Theory

    NASA Astrophysics Data System (ADS)

    Lopes, Artur O.; Neumann, Adriana

    2015-05-01

    In the present paper, we consider a family of continuous time symmetric random walks indexed by , . For each the matching random walk take values in the finite set of states ; notice that is a subset of , where is the unitary circle. The infinitesimal generator of such chain is denoted by . The stationary probability for such process converges to the uniform distribution on the circle, when . Here we want to study other natural measures, obtained via a limit on , that are concentrated on some points of . We will disturb this process by a potential and study for each the perturbed stationary measures of this new process when . We disturb the system considering a fixed potential and we will denote by the restriction of to . Then, we define a non-stochastic semigroup generated by the matrix , where is the infinifesimal generator of . From the continuous time Perron's Theorem one can normalized such semigroup, and, then we get another stochastic semigroup which generates a continuous time Markov Chain taking values on . This new chain is called the continuous time Gibbs state associated to the potential , see (Lopes et al. in J Stat Phys 152:894-933, 2013). The stationary probability vector for such Markov Chain is denoted by . We assume that the maximum of is attained in a unique point of , and from this will follow that . Thus, here, our main goal is to analyze the large deviation principle for the family , when . The deviation function , which is defined on , will be obtained from a procedure based on fixed points of the Lax-Oleinik operator and Aubry-Mather theory. In order to obtain the associated Lax-Oleinik operator we use the Varadhan's Lemma for the process . For a careful analysis of the problem we present full details of the proof of the Large Deviation Principle, in the Skorohod space, for such family of Markov Chains, when . Finally, we compute the entropy of the invariant probabilities on the Skorohod space associated to the Markov Chains we analyze.

  8. Depression and violence: a Swedish population study

    PubMed Central

    Fazel, Seena; Wolf, Achim; Chang, Zheng; Larsson, Henrik; Goodwin, Guy M; Lichtenstein, Paul

    2015-01-01

    follow-up time of 5·4 years, 88 violent crimes were recorded. Depressive symptoms were associated with increased risk of violent crime and a sensitivity analysis identified little difference in risk estimate when all crimes (violent and non-violent) was the outcome. Interpretation Risk of violent crime was increased in individuals with depression after adjustment for familial, sociodemographic and individual factors in two longitudinal studies. Clinical guidelines should consider recommending violence risk assessment in certain subgroups with depression. Funding Wellcome Trust and the Swedish Research Council. PMID:26236648

  9. Birth order and physical fitness in early adulthood: evidence from Swedish military conscription data.

    PubMed

    Barclay, Kieron; Myrskylä, Mikko

    2014-12-01

    Physical fitness at young adult ages is an important determinant of physical health, cognitive ability, and mortality. However, few studies have addressed the relationship between early life conditions and physical fitness in adulthood. An important potential factor influencing physical fitness is birth order, which prior studies associate with several early- and later-life outcomes such as height and mortality. This is the first study to analyse the association between birth order and physical fitness in late adolescence. We use military conscription data on 218,873 Swedish males born between 1965 and 1977. Physical fitness is measured by a test of maximal working capacity, a measure of cardiovascular fitness closely related to V02max. We use linear regression with sibling fixed effects, meaning a within-family comparison, to eliminate the confounding influence of unobserved factors that vary between siblings. To understand the mechanism we further analyse whether the association between birth order and physical fitness varies by sibship size, parental socioeconomic status, birth cohort or length of the birth interval. We find a strong, negative and monotonic relationship between birth order and physical fitness. For example, third-born children have a maximal working capacity approximately 0.1 (p < 0.000) standard deviations lower than first-born children. The association exists both in small (3 or less children) and large families (4 or more children), in high and low socioeconomic status families, and amongst cohorts born in the 1960s and the 1970s. While in the whole population the birth order effect does not depend on the length of the birth intervals, in two-child families a longer birth interval strengthens the advantage of the first-born. Our results illustrate the importance of birth order for physical fitness, and suggest that the first-born advantage already arises in late adolescence. PMID:25462615

  10. Choice and privatisation in Swedish primary care.

    PubMed

    Anell, Anders

    2011-10-01

    In 2007, a new wave of local reforms involving choice for the population and privatisation of providers was initiated in Swedish primary care. Important objectives behind reforms were to strengthen the role of primary care and to improve performance in terms of access and responsiveness. The purpose of this article was to compare the characteristics of the new models and to discuss changes in financial incentives for providers and challenges regarding governance from the part of county councils. A majority of the models being introduced across the 21 county councils can best be described as innovative combinations between a comprehensive responsibility for providers and significant degrees of freedom regarding choice for the population. Key financial characteristics of fixed payment and comprehensive financial responsibility for providers may create financial incentives to under-provide care. Informed choices by the population, in combination with reasonably low barriers for providers to enter the primary care market, should theoretically counterbalance such incentives. To facilitate such competition is indeed a challenge, not only because of difficulties in implementing informed choices but also because the new models favour large and/or horizontally integrated providers. To prevent monopolistic behaviour, county councils may have to accept more competition as well as more governance over clinical practice than initially intended. PMID:20701829

  11. Issues and Methodologies in Large-Scale Assessments. Special Issue 2: Measuring Students' Family Background in Large-Scale International Education Studies. IERI Monograph Series

    ERIC Educational Resources Information Center

    Brese, Falk; Mirazchiyski, Plamen

    2013-01-01

    The relationship between students' family background and achievement is often seen as an important topic in regard to equality and equity of educational provision. The results of various education studies show that the family background of students correlates with students' academic achievement at school. This paper focuses on the measurement of…

  12. High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

    PubMed Central

    Aretz, S; Stienen, D; Uhlhaas, S; Stolte, M; Entius, M M; Loff, S; Back, W; Kaufmann, A; Keller, K‐M; Blaas, S H; Siebert, R; Vogt, S; Spranger, S; Holinski‐Feder, E; Sunde, L; Propping, P; Friedl, W

    2007-01-01

    Background In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. Methods Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical criteria for JPS (typical JPS) and 15 were suspected to have JPS. Results By direct sequencing of the two genes, point mutations were identified in 30 patients (46% of typical JPS). Using MLPA, large genomic deletions were found in 14% of all patients with typical JPS (six deletions in SMAD4 and three deletions in BMPR1A). Mutation analysis of the PTEN gene in the remaining 41 mutation negative cases uncovered a point mutation in two patients (5%). SMAD4 mutation carriers had a significantly higher frequency of gastric polyposis (73%) than did patients with BMPR1A mutations (8%) (p<0.001); all seven cases of gastric cancer occurred in families with SMAD4 mutations. SMAD4 mutation carriers with gastric polyps were significantly older at gastroscopy than those without (p<0.001). In 22% of the 23 unrelated SMAD4 mutation carriers, hereditary hemorrhagic telangiectasia (HHT) was also diagnosed clinically. The documented histologic findings encompassed a wide distribution of different polyp types, comparable with that described in hereditary mixed polyposis syndromes (HMPS). Conclusions Screening for large deletions raised the mutation detection rate to 60% in the 65 patients with typical JPS. A strong genotype‐phenotype correlation for gastric polyposis, gastric cancer, and HHT was identified, which should have implications for counselling and surveillance. Histopathological results in hamartomatous polyposis syndromes must be critically interpreted. PMID:17873119

  13. Large repayments of premium subsidies may be owed to the IRS if family income changes are not promptly reported.

    PubMed

    Jacobs, Ken; Graham-Squire, Dave; Gould, Elise; Roby, Dylan

    2013-09-01

    Subsidies for health insurance premiums under the Affordable Care Act are refundable tax credits. They can be taken when taxes are filed or in advance, as reductions in monthly premiums that must be reconciled at tax filing. Recipients who take subsidies in advance will receive tax refunds if their subsidies were too small but will have to make repayments if their subsidies were too high. We analyzed predicted repayments and refunds for people receiving subsidies, using California as a case study. We found that many families could owe large repayments to the Internal Revenue Service at their next tax filing. If income changes were reported and credits adjusted in a timely manner throughout the tax year, the number of filers owing repayments would be reduced by 7-41 percent and the median size of repayments reduced by as much as 61 percent (depending on the level of changes reported and the method used to adjust the subsidy amounts). We recommend that the health insurance exchanges mandated by the Affordable Care Act educate consumers about how the subsidies work and the need to promptly report income changes. We also recommend that they provide tools and assistance to determine the amount of subsidies that enrollees should take in advance. PMID:24019357

  14. Comparison of Topic Organization in Finnish, Swedish-Finnish, and Swedish Family Discourse

    ERIC Educational Resources Information Center

    Tryggvason, Marja-Terttu

    2004-01-01

    The purpose of this study was to examine whether there are cultural differences in topic organization and role-related topic control in dinner conversations; such differences may function as a means for socialization into communicative styles. The research was designed as a comparative study of two geographically close but linguistically very…

  15. The Analysis Portal and the Swedish LifeWatch e-infrastructure for biodiversity research

    PubMed Central

    Käck, Martin; Karlsson, Björn; Kindvall, Oskar

    2016-01-01

    Abstract Background During the last years, more and more online portals were generated and are now available for ecologists to run advanced models with extensive data sets. Some examples are the Biodiversity Virtual e-Laboratory (BioVel) Portal (https://portal.biovel.eu) for ecological niche modelling and the Mobyle SNAP Workbench (https://snap.hpc.ncsu.edu) for evolutionary and population genetics analysis. Such portals have the main goal to facilitate the run of advanced models, through access to large-capacity computers or servers. In this study, we present the Analysis Portal (www.analysisportal.se), which is a part of the Swedish LifeWatch e-infrastructure for biodiversity research that combines a variety of Swedish web services to perform different kinds of dataprocessing. New information For the first time, the Swedish Analysis Portal for integrated analysis of species occurrence data is described in detail. It was launched in 2013 and today, over 60 Million Swedish species observation records can be assessed, visualized and analyzed via the portal. Datasets can be assembled using sophisticated filtering tools, and combined with environmental and climatic data from a wide range of providers. Different validation tools, for example the official Swedish taxon concept database Dyntaxa, ensure high data quality. Results can be downloaded in different formats as maps, tables, diagrams and reports. PMID:27099553

  16. Redistributive effects of Swedish health care finance.

    PubMed

    Gerdtham, U G; Sundberg, G

    1998-01-01

    This paper investigates the redistributive effects of the Swedish health care financing system in 1980 and 1990 for four different financial sources: county council taxes, payroll taxes, direct payments and state grants. The redistributive effects are decomposed into vertical, horizontal and 'reranking' segments for each of the four financial sources. The data used are based on probability samples of the Swedish population, from the Level of Living Survey (LNU) from 1981 and 1991. The paper concludes that the Swedish health care financing system is weakly progressive, although direct payments are regressive. There is some horizontal inequity and 'reranking', which mainly comes from the county council taxes, since those tax rates vary for each county council. The implication is that, to some extent, people with equal incomes are treated unequally. PMID:10346051

  17. Integration of ethnic food into Swedish food rituals. The cultural fitness of tacos.

    PubMed

    Solér, Cecilia; Plazas, Maite Creixell

    2012-06-01

    This paper explores the meaning of the Mexican dish tacos for Swedish consumers. As such, this study examines the relationship between ethnic food and food culture in light of contemporary changing food rituals. The results reveal that the Swedish food ritual of Friday dinner can be enacted through eating tacos. Friday dinner is a point in time and space at which family members gather, after a busy week following divergent schedules that keep them from eating together, and to which children's food preferences are central. Tacos fulfil all the requirements for a quick-to-cook yet social dish that enables hardworking but time-constrained families to eat together. The much-debated informal and fragmented character of food consumption in contemporary society is accommodated in the taco meal. PMID:22366640

  18. WISC-III Index Score Profiles of 520 Swedish Children with Pervasive Developmental Disorders

    ERIC Educational Resources Information Center

    Zander, Eric; Dahlgren, Sven Olof

    2010-01-01

    WISC-III (Wechsler, 1991) index score profiles and their characteristics were examined with traditional statistics in a large Swedish sample consisting of children with autistic disorder (n = 85), Asperger's disorder (n = 341), or pervasive developmental disorders not otherwise specified (PDD-NOS; n = 94). There was a clear and significant…

  19. Cause for Concern or Moral Panic? The Prospects of the Swedish Mods in Retrospect

    ERIC Educational Resources Information Center

    Alm, Susanne; Nilsson, Anders

    2011-01-01

    The Swedish mods of the 1960s frightened the parental generation like few other youth cultures. Was the concern justified--was the mod culture a hotbed of social maladjustment? Or would the mods come to live conventional lives to the same extent as their peers? We present analyses from a large longitudinal study allowing for a follow-up of…

  20. The Swedish Institute for the Handicapped--A Survey.

    ERIC Educational Resources Information Center

    Swedish Inst. for the Handicapped, Bromma.

    Briefly described are the financing, function, and organization of the Swedish Institute for the Handicapped established in 1968. Reported are increased funding by the Swedish government from 3.5 million Swedish kronas (Skr) in 1950/51 to over 200 million Skr (equivalent to 45 million U.S. dollars) in 1972/73 for technical aids and improved…

  1. Development and Two-Year Follow-Up Evaluation of a Training Workshop for the Large Preventive Positive Psychology Happy Family Kitchen Project in Hong Kong.

    PubMed

    Lai, Agnes Y; Mui, Moses W; Wan, Alice; Stewart, Sunita M; Yew, Carol; Lam, Tai-Hing; Chan, Sophia S

    2016-01-01

    Evidence-based practice and capacity-building approaches are essential for large-scale health promotion interventions. However, there are few models in the literature to guide and evaluate training of social service workers in community settings. This paper presents the development and evaluation of the "train-the-trainer" workshop (TTT) for the first large scale, community-based, family intervention projects, entitled "Happy Family Kitchen Project" (HFK) under the FAMILY project, a Hong Kong Jockey Club Initiative for a Harmonious Society. The workshop aimed to enhance social workers' competence and performance in applying positive psychology constructs in their family interventions under HFK to improve family well-being of the community they served. The two-day TTT was developed and implemented by a multidisciplinary team in partnership with community agencies to 50 social workers (64% women). It focused on the enhancement of knowledge, attitude, and practice of five specific positive psychology themes, which were the basis for the subsequent development of the 23 family interventions for 1419 participants. Acceptability and applicability were enhanced by completing a needs assessment prior to the training. The TTT was evaluated by trainees' reactions to the training content and design, changes in learners (trainees) and benefits to the service organizations. Focus group interviews to evaluate the workshop at three months after the training, and questionnaire survey at pre-training, immediately after, six months, one year and two years after training were conducted. There were statistically significant increases with large to moderate effect size in perceived knowledge, self-efficacy and practice after training, which sustained to 2-year follow-up. Furthermore, there were statistically significant improvements in family communication and well-being of the participants in the HFK interventions they implemented after training. This paper offers a practical example

  2. Development and Two-Year Follow-Up Evaluation of a Training Workshop for the Large Preventive Positive Psychology Happy Family Kitchen Project in Hong Kong

    PubMed Central

    Lai, Agnes Y.; Mui, Moses W.; Wan, Alice; Stewart, Sunita M.; Yew, Carol; Lam, Tai-hing; Chan, Sophia S.

    2016-01-01

    Evidence-based practice and capacity-building approaches are essential for large-scale health promotion interventions. However, there are few models in the literature to guide and evaluate training of social service workers in community settings. This paper presents the development and evaluation of the “train-the-trainer” workshop (TTT) for the first large scale, community-based, family intervention projects, entitled “Happy Family Kitchen Project” (HFK) under the FAMILY project, a Hong Kong Jockey Club Initiative for a Harmonious Society. The workshop aimed to enhance social workers’ competence and performance in applying positive psychology constructs in their family interventions under HFK to improve family well-being of the community they served. The two-day TTT was developed and implemented by a multidisciplinary team in partnership with community agencies to 50 social workers (64% women). It focused on the enhancement of knowledge, attitude, and practice of five specific positive psychology themes, which were the basis for the subsequent development of the 23 family interventions for 1419 participants. Acceptability and applicability were enhanced by completing a needs assessment prior to the training. The TTT was evaluated by trainees’ reactions to the training content and design, changes in learners (trainees) and benefits to the service organizations. Focus group interviews to evaluate the workshop at three months after the training, and questionnaire survey at pre-training, immediately after, six months, one year and two years after training were conducted. There were statistically significant increases with large to moderate effect size in perceived knowledge, self-efficacy and practice after training, which sustained to 2-year follow-up. Furthermore, there were statistically significant improvements in family communication and well-being of the participants in the HFK interventions they implemented after training. This paper offers a

  3. Living in a Large Family does Something for You: Influence of Family on the Achievement of African and Caribbean Women in Science

    NASA Astrophysics Data System (ADS)

    Beoku-Betts, Josephine A.

    This article examines the influence of the family on women's achievement in scientific careers in the sub-Saharan African and Caribbean regions. It is based on semistructured interviews with 20 doctoral-level African and Caribbean women scientists working in research and academic institutions in these societies. Given the diversity of structural conditions, and economic, geopolitical, and sociocultural experiences, it is argued that the road to success in the pursuance of a scientific career are not the same, although there are areas of common ground. The study shows that when compared with their North American and European counterparts, there are significant differences in the family experiences of African and Caribbean women scientists that must be made visible and pursued more rigorously in further studies.

  4. Mutational analysis of the neuronal cadherin gene CELSR1 and exclusion as a candidate for catatonic schizophrenia in a large family.

    PubMed

    Gross, J; Grimm, O; Ortega, G; Teuber, I; Lesch, K P; Meyer, J

    2001-12-01

    The cadherin gene CELSR1 is specifically expressed in the brain and located on chromosome 22q13.33, a region that has recently been shown to be involved in the etiopathogenesis of familial catatonic schizophrenia. The gene is a strong positional candidate and was considered for mutational analysis. A total of 17 allelic variants of CELSR1 was found by sequencing all 35 exons, intron-exon junctions, and the putative promoter region by screening two patients from a large family mainly supporting this locus, and three control subjects in a first step. No variant exclusively co-segregates with the disease in the large pedigree, providing evidence that CELSR1 is not causative for the pathogenesis of catatonic schizophrenia in this family. PMID:11807409

  5. Mapping of a possible X-linked form of familial developmental dysphasia (FDD) in a single large pedigree

    SciTech Connect

    Dunne, P.W.; Doody, R.S.; Epstein, H.F.

    1994-09-01

    Children diagnosed with developmental dysphasia develop speech very late without exhibiting sensory or motor dysfunction, and when they do begin to speak their grammar is abnormal. A large three-generation British pedigree was recently identified in which 16 out of 30 members were diagnosed as dysphasic. Assuming a dominant mode of inheritance with homogeneous phenotypic expression and complete penetrance among affected members, we showed by simulation analysis that this pedigree has the power to detect linkage to marker loci with an average maximum LOD score of 3.67 at {theta}=0.1. Given the absence of male-to-male transmission and a ratio of female to male affecteds (10/6) in this pedigree within the expected range for an X-linked dominant mode of inheritance, we decided to begin a genome-wide linkage analysis with microsatellite markers on the human X chromosome. Fifteen individuals (10 affected) from three generations were genotyped with 35 polymorphic STS`s (Research Genetics) which were approximately uniformly distributed along the X chromosome. Two-point linkage was assessed using the MLINK and ILINK programs from the LINKAGE package. Markers DXS1223, DXS987, DXS996 and DXS1060 on Xp22 showed consistent linkage to the disease locus with a maximum LOD score of 0.86 at a distance of 22 cM for DXS1060. If further analysis with additional markers and additional family members confirms X-linkage, such a localization would provide support for Lehrke`s hypothesis for X-linkage of major intellectual traits including verbal functioning.

  6. Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel

    PubMed Central

    Steiner, Hillel A.; Uradu, Andrea; Lynnes, Ty C.; Groh, William J.; Miller, John M.; Lin, Hai; Gao, Hongyu; Wang, Zhiping; Liu, Yunlong; Chen, Peng-Sheng; Vatta, Matteo

    2015-01-01

    Background The etiology of conduction disturbances necessitating permanent pacemaker (PPM) implantation is often unknown, although familial aggregation of PPM (faPPM) suggests a possible genetic basis. We developed a pan-cardiovascular next generation sequencing (NGS) panel to genetically characterize a selected cohort of faPPM. Materials and Methods We designed and validated a custom NGS panel targeting the coding and splicing regions of 246 genes with involvement in cardiac pathogenicity. We enrolled 112 PPM patients and selected nine (8%) with faPPM to be analyzed by NGS. Results Our NGS panel covers 95% of the intended target with an average of 229x read depth at a minimum of 15-fold depth, reaching a SNP true positive rate of 98%. The faPPM patients presented with isolated cardiac conduction disease (ICCD) or sick sinus syndrome (SSS) without overt structural heart disease or identifiable secondary etiology. Three patients (33.3%) had heterozygous deleterious variants previously reported in autosomal dominant cardiac diseases including CCD: LDB3 (p.D117N) and TRPM4 (p.G844D) variants in patient 4; TRPM4 (p.G844D) and ABCC9 (p.V734I) variants in patient 6; and SCN5A (p.T220I) and APOB (p.R3527Q) variants in patient 7. Conclusion FaPPM occurred in 8% of our PPM clinic population. The employment of massive parallel sequencing for a large selected panel of cardiovascular genes identified a high percentage (33.3%) of the faPPM patients with deleterious variants previously reported in autosomal dominant cardiac diseases, suggesting that genetic variants may play a role in faPPM. PMID:26636822

  7. Communicability of H1N1 and seasonal influenza among household contacts of cases in large families

    PubMed Central

    Mohamed, Ashry G.; BinSaeed, Abdulaziz A.; Al‐Habib, Hannan; Al‐Saif, Hytham

    2011-01-01

    Please cite this paper as: Mohamed et al. (2011) Communicability of H1N1 and seasonal influenza among household contacts of cases in large families. Influenza and Other Respiratory Viruses 6(3), e25–e29. Background  Quantitative knowledge of the transmissibility of influenza is crucial to its prevention and control. Objectives  To quantify the transmission of influenza A (H1N1) and seasonal influenza in household contacts of patients with influenza diagnosed in a large university hospital. Patients/Methods  A prospective study was conducted between September and October 2009 in which all confirmed cases of influenza diagnosed at King Khalid University Hospital were included. All household contacts were followed by telephone calls every other day for 12 days. They were asked about the development of influenza symptoms in addition to their age and nationality. Results  Overall, 432 household contacts of 69 influenza A (H1N1) cases and 417 contacts of 91 seasonal influenza cases were included. Suspected influenza was diagnosed in 16·9% and 14·4% of household contacts of H1N1 and seasonal influenza patients, respectively. Household reproduction numbers were 1·06 (0·84–1·28) for H1N1 and 0·66 (0·51–0·81) for seasonal influenza. Children in households were more susceptible than were adults (22·2% versus 13·7%, respectively). Evidence of coughing in the index case tripled the risk of infection in households afflicted with the H1N1 influenza [relative risk (RR) = 3·28, CI = 1·24–8·69], while evidence of a runny nose doubled it (RR = 1·89, CI = 1·19–2·92). Conclusions  Communicability of influenza in households in Riyadh is comparable to that in other countries. Children are more susceptible to influenza infection. The presence of a cough or runny nose in the index cases increases the risk of infection. PMID:22118477

  8. The Politics of School Choice in Two Countries with Large Private-Dependent Sectors (Spain and Chile): Family Strategies, Collective Action and Lobbying

    ERIC Educational Resources Information Center

    Rambla, Xavier; Valiente, Oscar; Frias, Carla

    2011-01-01

    In many countries choice of school is an increasing concern for families and governments. In Spain and Chile, it is also associated with a long-standing political cleavage on the regulation of large sectors of private-dependent schools. This article analyses both the micro- and the macro-politics of choice in these two countries, where low-status…

  9. The Linguistic Competence of Mono- and Bi-Lingual Pupils in Swedish in the Finland-Swedish School.

    ERIC Educational Resources Information Center

    Lauren, Ulla

    1987-01-01

    Comparison of free written compositions of 86 bilingual (Finnish-Swedish) and 86 monolingual (Swedish) third-, sixth-, and ninth-graders in a Finland Swedish comprehensive school revealed that bilinguals produced significantly more syntactic, vocabulary, and phraseology errors. Background variables correlating with errors included the student's…

  10. Ambassadors of the Swedish Nation: National Images in the Teaching of the Swedish Lecturers in Germany 1918-1945

    ERIC Educational Resources Information Center

    Åkerlund, Andreas

    2015-01-01

    This article analyses the teaching of Swedish language lecturers active in Germany during the first half of the twentieth century. It shows the centrality of literature and literary constructions and analyses images of Swedishness and the Swedish nation present in the teaching material of that time in relation to the national image present in…

  11. Evaluating a questionnaire to measure improvement initiatives in Swedish healthcare

    PubMed Central

    2013-01-01

    Background Quality improvement initiatives have expanded recently within the healthcare sector. Studies have shown that less than 40% of these initiatives are successful, indicating the need for an instrument that can measure the progress and results of quality improvement initiatives and answer questions about how quality initiatives are conducted. The aim of the present study was to develop and test an instrument to measure improvement process and outcome in Swedish healthcare. Methods A questionnaire, founded on the Minnesota Innovation Survey (MIS), was developed in several steps. Items were merged and answer alternatives were revised. Employees participating in a county council improvement program received the web-based questionnaire. Data was analysed by descriptive statistics and correlation analysis. The questionnaire psychometric properties were investigated and an exploratory factor analysis was conducted. Results The Swedish Improvement Measurement Questionnaire consists of 27 items. The Improvement Effectiveness Outcome dimension consists of three items and has a Cronbach’s alpha coefficient of 0.67. The Internal Improvement Processes dimension consists of eight sub-dimensions with a total of 24 items. Cronbach’s alpha coefficient for the complete dimension was 0.72. Three significant item correlations were found. A large involvement in the improvement initiative was shown and the majority of the respondents were satisfied with their work. Conclusions The psychometric property tests suggest initial support for the questionnaire to study and evaluate quality improvement initiatives in Swedish healthcare settings. The overall satisfaction with the quality improvement initiative correlates positively to the awareness of individual responsibilities. PMID:23391160

  12. Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

    PubMed Central

    Lester, D H; Inglehearn, C F; Bashir, R; Ackford, H; Esakowitz, L; Jay, M; Bird, A C; Wright, A F; Papiha, S S; Bhattacharya, S S

    1990-01-01

    Recently Dryja and his co-workers observed a mutation in the 23d codon of the rhodopsin gene in a proportion of autosomal dominant retinitis pigmentosa (ADRP) patients. Linkage analysis with a rhodopsin-linked probe C17 (D3S47) was carried out in two large British ADRP families, one with diffuse-type (D-type) RP and the other with regional-type (R-type) RP. Significantly positive lod scores (lod score maximum [Zmax] = +5.58 at recombination fraction [theta] = .0) were obtained between C17 and our D-type ADRP family showing complete penetrance. Sequence and oligonucleotide analysis has, however, shown that no point mutation at the 23d codon exists in affected individuals in our complete-penetrance pedigree, indicating that another rhodopsin mutation is probably responsible for ADRP in this family. Significantly negative lod scores (Z less than -2 at theta = .045) were, however, obtained between C17 and our R-type family which showed incomplete penetrance. Previous results presented by this laboratory also showed no linkage between C17 and another large British R-type ADRP family with incomplete penetrance. This confirms genetic heterogeneity. Some types of ADRP are being caused by different mutations in the rhodopsin locus (3q21-24) or another tightly linked gene in this region, while other types of ADRP are the result of mutations elsewhere in the genome. Images Figure 2 Figure 3 Figure 4 PMID:2393026

  13. Large pericardial effusion in a family with recurrent pericarditis: A report of probable x-linked transmission

    PubMed Central

    Maggiolini, Stefano; Tiberti, Gianluca; Cantarini, Luca; Carbone, Claudio; Mariani, Silvana; Achilli, Felice; Maestroni, Silvia; Brucato, Antonio

    2011-01-01

    Three cases of recurrent pleuropericarditis were observed within the same family – in two sisters and their niece, who were 18, 35 and 18 years of age, respectively. One patient was treated with pericardiectomy, and the other two were treated with colchicine. Mutations associated with autoinflammatory diseases (tumour necrosis factor receptor-associated periodic syndrome and familial Mediterranean fever) were absent; the condition was found to be sex linked. PMID:21747666

  14. The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24.

    PubMed

    Rudkjøbing, Laura Aviaja; Eiberg, Hans; Mikkelsen, Hanne Birte; Binderup, Marie Louise Mølgaard; Bisgaard, Marie Luise

    2015-09-01

    Hereditary colorectal cancer accounts for approximately 30% of all colorectal cancers, but currently only 5% of these families can be explained by highly penetrant, inherited mutations. In the remaining 25% it is not possible to perform a gene test to identify the family members who would benefit from prophylactic screening. Consequently, all family members are asked to follow a screening program. The purpose of this study was to localize a new gene which causes colorectal cancer. We performed a linkage analysis using data from a SNP6.0 chip in one large family with 12 affected family members. We extended the linkage analysis with microsatellites (STS) and single nucleotide polymorphisms (SNP's) and looked for the loss of heterozygosity in tumour tissue. Furthermore, we performed the exome sequencing of one family member and we sequenced candidate genes by use of direct sequencing. Major rearrangements were excluded after karyotyping. The linkage analysis with SNP6 data revealed three candidate areas, on chromosome 2, 6 and 11 respectively, with a LOD score close to two and no negative LOD scores. After extended linkage analysis, the area on chromosome 6 was excluded, leaving areas on chromosome 2 and chromosome 11 with the highest possible LOD scores of 2.6. Two other studies have identified 11q24 as a candidate area for colorectal cancer susceptibility and this area is supported by our results. PMID:25724759

  15. Survey of Foreigners' Pronunciation Problems in Swedish.

    ERIC Educational Resources Information Center

    Bannert, Robert

    This paper reports results of an analysis of pronunciation problems and error patterns in the recorded speech of 38 immigrants to Sweden. The recordings, of both spontaneous and elicited speech in Swedish, were taken from an archival collection. The native-language groups studied include British English, Spanish, Polish, Finnish, Greek, Persian,…

  16. Are Boys Discriminated in Swedish High Schools?

    ERIC Educational Resources Information Center

    Hinnerich, Bjorn Tyrefors; Hoglin, Erik; Johannesson, Magnus

    2011-01-01

    Girls typically have higher grades than boys in school and recent research suggests that part of this gender difference may be due to discrimination of boys in grading. We rigorously test this in a field experiment where a random sample of the same tests in the Swedish language is subject to blind and non-blind grading. The non-blind test score is…

  17. Evaluation of Swedish Youth Labor Market Programs.

    ERIC Educational Resources Information Center

    Larsson, Laura

    2003-01-01

    Nonparametric matching was used to estimate the effects of two Swedish youth employment programs: youth practice (subsidized work experience, n=1,657) and labor market training (n=606). Results indicate either zero or negative effects on earnings, employment probability, or probability of entering an education program in the short term. Youth…

  18. The Widening Gap--A Swedish Perspective

    ERIC Educational Resources Information Center

    Brandell, Gerd; Hemmi, Kristi; Thunberg, Hans

    2008-01-01

    Transition problems from secondary to tertiary level in mathematics have been a recurrent issue in Sweden. This paper summarises the development during the last decades. Results from two recent research studies that illuminate the transition problem are presented. The first one, based on empirical data from a major Swedish technical university,…

  19. Mathematics and Didactic Contract in Swedish Preschools

    ERIC Educational Resources Information Center

    Delacour, Laurence

    2016-01-01

    The purpose of this article is to study and analyse how a teacher implements an outdoor realistic problem situation for children aged 4-5 in a Swedish preschool. By an "outdoor realistic problem situation", I mean a situation initiated by a teacher in which children come into contact with mathematical concepts and in which the outside…

  20. New Trends in Swedish Educational Research

    ERIC Educational Resources Information Center

    Englund, Tomas

    2006-01-01

    What new tendencies can be made out in Swedish educational research in the last three decades? Briefly, the following developments are described: In the 1970s, a long-prevailing emphasis on quantitative research was challenged by a number of different qualitative methods. Traditional sociology of education, meanwhile, was challenged by the new…

  1. ADULT EDUCATION AND SWEDISH POLITICAL LEADERSHIP.

    ERIC Educational Resources Information Center

    ERICKSON, HERMAN

    IN AN ATTEMPT TO EVALUATE THE INFLUENCE OF ADULT EDUCATION ON SWEDISH POLITICAL LEADERSHIP AND ON SOCIAL AND ECONOMIC PROGRESS IN A DEMOCRATIC SOCIETY, INFORMATION WAS GATHERED ON THE EDUCATION OF POLITICAL AND LABOR LEADERS. AMONG MEMBERS OF PARLIAMENT, 66 PERCENT OF THE TOTAL, 79 PERCENT OF THE SOCIAL DEMOCRATS, 87 PERCENT OF AGRARIANS, 41…

  2. Tag Questions and Gender in Swedish Conversations.

    ERIC Educational Resources Information Center

    Nordenstam, Kerstin

    A study investigated the use of tag questions in the private conversations of Swedish men and women. Conversations took place in single-gender dyads (six with two men and six with two women) and six mixed-gender dyads. Informants were aged approximately 25 or approximately 50, of different social classes, chosen by random selection, and asked to…

  3. Leisure, Government and Governance: A Swedish Perspective

    ERIC Educational Resources Information Center

    Lindstrom, Lisbeth

    2011-01-01

    The leisure sector has witnessed a tremendous expansion since 1960. The purpose of this article is to analyse the decisions and goals of Swedish government policy during the period 1962 to 2005. The empirical analysis covers government Propositions and governmental investigations. The fields covered are sports, culture, exercise, tourism and…

  4. Swedish Speakers' Literacy in the Finnish Society.

    ERIC Educational Resources Information Center

    Brunell, Viking; Linnakyla, Pirjo

    1994-01-01

    Discusses the International Association for the Evaluation of Educational Achievement's reading literacy study in Finland. Shows that, although language-minority students are often expected to have lower achievement in school, students from Swedish-speaking homes in Finland scored almost as well as their Finnish-speaking counterparts on extensive…

  5. Training Entrepreneurship at Universities: A Swedish Case.

    ERIC Educational Resources Information Center

    Klofsten, Magnus

    2000-01-01

    The Entrepreneurship and New Business Development Program trains Swedish individuals in the startup of technology- or knowledge-based enterprises. Built on the characteristics of entrepreneurial behavior, the program features a holistic outlook, a network of established entrepreneurs, mentoring, a mix of theory and practice, and focus on the…

  6. The Swedish Rocket Corps, 1833 - 1845

    NASA Technical Reports Server (NTRS)

    Skoog, A. I.

    1977-01-01

    Rockets for pyrotechnic displays used in Sweden in the 19th century are examined in terms of their use in war situations. Work done by the Swedish chemist J. J. Berzelius, who analyzed and improved the propellants of such rockets, and the German engineer, Martin Westermaijer, who researched manufacturing techniques of these rockets is also included.

  7. Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer

    PubMed Central

    Belogianni, Ioulia; Apessos, Angela; Mihalatos, Markos; Razi, Evangelia; Labropoulos, Stefanos; Petounis, Andreas; Gaki, Vasiliki; Keramopoulos, Antonios; Pandis, Nikos; Kyriacou, Kyriacos; Hadjisavvas, Andreas; Kosmidis, Paris; Yannoukakos, Drakoulis; Nasioulas, Georgios

    2004-01-01

    Background Germline mutations in BRCA1 and BRCA2 predispose to breast and ovarian cancer. A multitude of mutations have been described and are found to be scattered throughout these two large genes. We describe analysis of BRCA1 in 25 individuals from 18 families from a Greek cohort. Methods The approach used is based on dHPLC mutation screening of the BRCA1 gene, followed by sequencing of fragments suspected to carry a mutation including intron – exon boundaries. In patients with a strong family history but for whom no mutations were detected, analysis was extended to exons 10 and 11 of the BRCA2 gene, followed by MLPA analysis for screening for large genomic rearrangements. Results A pathogenic mutation in BRCA1 was identified in 5/18 (27.7 %) families, where four distinct mutations have been observed. Single base putative pathogenic mutations were identified by dHPLC and confirmed by sequence analysis in 4 families: 5382insC (in two families), G1738R, and 5586G > A (in one family each). In addition, 18 unclassified variants and silent polymorphisms were detected including a novel silent polymorphism in exon 11 of the BRCA1 gene. Finally, MLPA revealed deletion of exon 20 of the BRCA1 gene in one family, a deletion that encompasses 3.2 kb of the gene starting 21 bases into exon 20 and extending 3.2 kb into intron 20 and leads to skipping of the entire exon 20. The 3' breakpoint lies within an AluSp repeat but there are no recognizable repeat motifs at the 5' breakpoint implicating a mechanism different to Alu-mediated recombination, responsible for the majority of rearrangements in the BRCA1 gene. Conclusions We conclude that a combination of techniques capable of detecting both single base mutations and small insertions / deletions and large genomic rearrangements is necessary in order to accurately analyze the BRCA1 gene in patients at high risk of carrying a germline mutation as determined by their family history. Furthermore, our results suggest that in

  8. Use of different mouthrinses in an adult Swedish population.

    PubMed

    Särner, Barbro; Sundin, Erik; Abdulrahman, Sazan; Birkhed, Dowen; Lingström, Peter

    2012-01-01

    The purpose of this study was to evaluate the use of mouthrinse products in a Swedish adult population and the factors that influence their use. A questionnaire, comprising semi-closed questions focusing on mouthrinses for oral health, was distributed to randomly selected 700 individuals aged 17-94 years (final response rate of 60%). The data revealed that 47% of the individuals use a mouthrinse product on a regular basis and that it does not differ significantly due to age. Women use such products to a greater extent than men. Individuals who brush their teeth and who use approximal cleaning aids frequently appear to use mouthrinse products to a greater degree. Rinsing is primarily performed once a day or more (45%), in the evening (57%) and after brushing (87%). Those individuals that have been recommended to use the products by dentists and dental hygienists use them to a greater degree (78%) than those who have not received any recommendations (27%). Apart from dental personnel, advertising also plays a significant role in product selection. Of the different products available on the market, pure fluoride products constitute 46%. To summarise, this study indicates that a Swedish adult population, especially women, uses mouthrinse products to a relatively large extent, mainly as a supplement to other oral hygiene procedures such as brushing with a fluoride toothpaste twice daily. To select the most suitable product, the dental personnell should play a more active role in recommendations to the patients who need or want to use mouthrinses. PMID:22611905

  9. Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).

    PubMed

    Abdul Wahab, A; Al Thani, G; Dawod, S T; Kambouris, M; Al Hamed, M

    2001-04-01

    Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar. PMID:11336127

  10. Function search in a large transcription factor gene family in Arabidopsis: assessing the potential of reverse genetics to identify insertional mutations in R2R3 MYB genes.

    PubMed Central

    Meissner, R C; Jin, H; Cominelli, E; Denekamp, M; Fuertes, A; Greco, R; Kranz, H D; Penfield, S; Petroni, K; Urzainqui, A; Martin, C; Paz-Ares, J; Smeekens, S; Tonelli, C; Weisshaar, B; Baumann, E; Klimyuk, V; Marillonnet, S; Patel, K; Speulman, E; Tissier, A F; Bouchez, D; Jones, J J; Pereira, A; Wisman, E

    1999-01-01

    More than 92 genes encoding MYB transcription factors of the R2R3 class have been described in Arabidopsis. The functions of a few members of this large gene family have been described, indicating important roles for R2R3 MYB transcription factors in the regulation of secondary metabolism, cell shape, and disease resistance, and in responses to growth regulators and stresses. For the majority of the genes in this family, however, little functional information is available. As the first step to characterizing these genes functionally, the sequences of >90 family members, and the map positions and expression profiles of >60 members, have been determined previously. An important second step in the functional analysis of the MYB family, through a process of reverse genetics that entails the isolation of insertion mutants, is described here. For this purpose, a variety of gene disruption resources has been used, including T-DNA-insertion populations and three distinct populations that harbor transposon insertions. We report the isolation of 47 insertions into 36 distinct MYB genes by screening a total of 73 genes. These defined insertion lines will provide the foundation for subsequent detailed functional analyses for the assignment of specific functions to individual members of the R2R3 MYB gene family. PMID:10521515

  11. Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family

    PubMed Central

    XU, DONG-LING; TIAN, HONG-LIANG; CAI, WEI-LI; ZHENG, JIE; GAO, MIN; ZHANG, MING-XIANG; ZHENG, ZHAO-TONG; LU, QING-HUA

    2016-01-01

    The aim of the present study was to identify the genetic defect responsible for familial coronary artery disease/myocardial infarction (CAD/MI), which exhibited an autosomal dominant pattern of inheritance, in an extended Chinese Han pedigree containing 34 members. Using exome and Sanger sequencing, a novel 6-base pair (bp) 'CAGCCG' deletion in exon 11 of the myocyte enhancer factor 2A (MEF2A) gene was identified, which cosegregated with CAD/MI cases in this family. This 6-bp deletion was not detected in 311 sporadic cases of premature CAD/MI or in 323 unrelated healthy controls. Determination of a genetic risk profile has a key role in understanding the pathogenesis of CAD and MI. Among the reported risk conferring genes and their variants, mutations in MEF2A have been reported to segregate with CAD/MI in Caucasian families. Causative missense mutations have also been detected in sporadic CAD/MI cases. However, this suggested genetic linkage is controversial, since it could not be confirmed by ensuing studies. The discovery of a novel MEF2A mutation in a Chinese family with premature CAD/MI suggests that MEF2A may have a significant role in the pathogenesis of premature CAD/MI. To better understand this association, further in vitro and in vivo studies are required. PMID:27221044

  12. Clinical variability of the cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in two siblings of a large family showing the same mutation

    PubMed Central

    Vyshka, Gentian; Kruja, Jera

    2013-01-01

    A 44-year-old Albanian male was consulted and diagnosed with dementia. His magnetic resonance imaging suggested diffuse white matter changes. The suspicion of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was raised, and a genetic analysis confirmed such a suspicion through uncovering a pathogenic mutation at the level of exon 4 (c.475C>T) of chromosome 19. The patient came from a large family of 13 children, all of whom underwent clinical, genetic, and imaging examination. The pathogenic mutation was found present only in his eldest sister (50 years old), and she presented also very suggestive signs of CADASIL in her respective imaging study, but without any clinically significant counterpart. All other siblings were free from clinical and radiological signs of the disorder. Our opinion was that we were dealing with a mutation showing a very low level of penetrance, with only two siblings affected in a large Albanian family with 13 children. PMID:24124395

  13. The large soybean (Glycine max) WRKY TF family expanded by segmental duplication events and subsequent divergent selection among subgroups

    PubMed Central

    2013-01-01

    Background WRKY genes encode one of the most abundant groups of transcription factors in higher plants, and its members regulate important biological process such as growth, development, and responses to biotic and abiotic stresses. Although the soybean genome sequence has been published, functional studies on soybean genes still lag behind those of other species. Results We identified a total of 133 WRKY members in the soybean genome. According to structural features of their encoded proteins and to the phylogenetic tree, the soybean WRKY family could be classified into three groups (groups I, II, and III). A majority of WRKY genes (76.7%; 102 of 133) were segmentally duplicated and 13.5% (18 of 133) of the genes were tandemly duplicated. This pattern was not apparent in Arabidopsis or rice. The transcriptome atlas revealed notable differential expression in either transcript abundance or in expression patterns under normal growth conditions, which indicated wide functional divergence in this family. Furthermore, some critical amino acids were detected using DIVERGE v2.0 in specific comparisons, suggesting that these sites have contributed to functional divergence among groups or subgroups. In addition, site model and branch-site model analyses of positive Darwinian selection (PDS) showed that different selection regimes could have affected the evolution of these groups. Sites with high probabilities of having been under PDS were found in groups I, II c, II e, and III. Together, these results contribute to a detailed understanding of the molecular evolution of the WRKY gene family in soybean. Conclusions In this work, all the WRKY genes, which were generated mainly through segmental duplication, were identified in the soybean genome. Moreover, differential expression and functional divergence of the duplicated WRKY genes were two major features of this family throughout their evolutionary history. Positive selection analysis revealed that the different groups have

  14. Catastrophic-flood Features in Swedish Lapland as a Terrestrial Analog for Martian Channel Flows

    NASA Technical Reports Server (NTRS)

    Rossbacher, L. A.; Rhodes, D. D.

    1985-01-01

    Catastrophic flooding associated with deglaciation created unusual landscapes in several areas of northern Sweden. These areas in Swedish Lapland are distinguished by the large grain-size material that forms them. The presence of boulders at both Viking landing sites suggests the relevance of this analog. The Baldakatj area of Swedish Lapland offers terrestrial analogs for erosional remnants on Mars. Although the Baldakatj features are an order of magnitude or more smaller than the Martian forms, they created in boulder-rich till that may be a good approximation of the near-surface material on Mars. The Baldakatj area also includes other landforms that could reasonably be expected to occur with the Martian outflow channels, including boulder deltas, large transported blocks, and large-scale bedforms.

  15. The Swedish Space Science programme - technical aspects

    NASA Astrophysics Data System (ADS)

    Lundahl, Kaj

    2003-08-01

    The Swedish Space Science programme comprises sounding rockets, balloons and satellites. The investigations relate to geophysical disciplines, astrophysics and microgravity research. Current and future scientific projects using sounding rockets, balloons and satellites are planned for investigation of the Earth's atmosphere, the aurora and its origin, sub-millimeter observations of interstellar medium and fluid physics. These investigations require increased technical capabilities with respect to playload and spacecraft design and ground based equipment.

  16. The Swedish Space Research Programme - technical aspects

    NASA Astrophysics Data System (ADS)

    Lundahl, Kaj

    2005-08-01

    The Swedish Space Research Programme compries sounding rockets, balloons and satellites. The investigations relate to geophysical disciplines, astrophysics and microgravity research. Current and future scientific projects using sounding rockets, balloons and satellites are planned for investigation of the Earth's atmosphere, the aurora and its origin, submillimeter observations of interstellar medium and fluid physics. These investigations require increased technical capabilities with respect to payload and spacecraft design and ground based equipment.

  17. Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families

    PubMed Central

    Li, Jun; Meeks, Huong; Feng, Bing-Jian; Healey, Sue; Thorne, Heather; Makunin, Igor; Ellis, Jonathan; Campbell, Ian; Southey, Melissa; Mitchell, Gillian; Clouston, David; Kirk, Judy; Goldgar, David; Chenevix-Trench, Georgia

    2016-01-01

    Introduction Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast cancer risks associated with mutations in many genes included in these panels are unknown. Methods We performed custom-designed targeted sequencing covering the coding exons of 17 known and putative breast cancer susceptibility genes in 660 non-BRCA1/2 women with familial breast cancer. Putative deleterious mutations were genotyped in relevant family members to assess co-segregation of each variant with disease. We used maximum likelihood models to estimate the breast cancer risks associated with mutations in each of the genes. Results We found 31 putative deleterious mutations in 7 known breast cancer susceptibility genes (TP53, PALB2, ATM, CHEK2, CDH1, PTEN and STK11) in 45 cases, and 22 potential deleterious mutations in 31 cases in 8 other genes (BARD1, BRIP1, MRE11, NBN, RAD50, RAD51C, RAD51D and CDK4). The relevant variants were then genotyped in 558 family members. Assuming a constant relative risk of breast cancer across age groups, only variants in CDH1, CHEK2, PALB2 and TP53 showed evidence of a significantly increased risk of breast cancer, with some supportive evidence that mutations in ATM confer moderate risk. Conclusions Panel testing for these breast cancer families provided additional relevant clinical information for <2% of families. We demonstrated that segregation analysis has some potential to help estimate the breast cancer risks associated with mutations in breast cancer susceptibility genes, but very large case–control sequencing studies and/or larger family-based studies will be needed to define the risks more accurately. PMID:26534844

  18. Swedish medical students' expectations of their future life

    PubMed Central

    Andersson, Jenny; Johansson, Eva E.; Verdonk, Petra; Lagro-Janssen, Antoine; Hamberg, Katarina

    2011-01-01

    Objectives: To investigate future life expectations among male and female medical students in their first and final year. Methods The study was cross-sectional and conducted at a Swedish medical school. Out of 600 invited students, 507 (85%) answered an open-ended question about their future life, 298 (59%) first-year students and 209 (41%) last-year students. Women constituted 60% of the respondents. A mixed model design was applied; qualitative content analysis was utilized to create statistically comparable themes and categories. Results Students’ written answers were coded, categorized and clustered into four themes: “Work”, “Family”, “Leisure” and “Quality of personal life”. Almost all students included aspects of work in their answers. Female students were more detailed than male ones in their family concerns. Almost a third of all students reflected on a future work-life balance, but considerations regarding quality of personal life and leisure were more common among last-year students. Conclusions Today’s medical students expect more of life than work, especially those standing on the doorstep of working life. They intend to balance work not only with a family but also with leisure activities. Our results reflect work attitudes that challenge the health care system for more adaptive working conditions. We suggest that discussions about work-life balance should be included in medical curricula.

  19. Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

    PubMed Central

    2014-01-01

    Background Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi-generation families to identify ASD risk genes had not been undertaken. Methods We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population. Results We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these variants were observed to have odds ratios greater than 1.5 in a set of 1,541 unrelated children with autism and 5,785 controls. Three variants, in the RAB11FIP5, ABP1, and JMJD7-PLA2G4B genes, each were observed in a single case and not in any controls. These variants also were not seen in public sequence databases, suggesting that they may be rare causal ASD variants. Twenty-eight additional rare variants were observed only in high-risk ASD families. Collectively, these 39 variants identify 36 genes as ASD risk genes. Segregation of sequence variants and of copy number variants previously detected in these families reveals a complex pattern, with only a RAB11FIP5 variant segregating to all affected individuals in one two-generation pedigree. Some affected individuals were found to have multiple potential risk alleles, including sequence variants and copy number variants (CNVs), suggesting that the high incidence of autism in these families could be best explained by variants at multiple loci. Conclusions Our study is the first to use haplotype sharing to identify familial ASD risk loci. In total, we identified 39 variants in 36 genes that may confer a genetic risk of developing autism. The

  20. Swedish scientists take acid-rain research to developing nations

    SciTech Connect

    Abate, T.

    1995-12-01

    In the realm of acid-rain research, Sweden looms large on the world stage. It is the country where scientists first proved more than 30 years ago that airborne chemicals could and did cross international boundaries to acidify lakes and forests far from where the pollution was generated. Now, Swedish scientists are leading an international effort to map acid-rain patterns in the developing countries of Asia, where new industrial activity seems to be recreating problems that European and North American policy makers have already taken steps to solve. Topics covered in this article include acid rain on the rise in Asia; visualizing and validating the data; funding as the key to steady research.

  1. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

    PubMed

    Yan, Xukun; Zhang, Tianyu; Wang, Zhengmin; Jiang, Yi; Chen, Yan; Wang, Hongyan; Ma, Duan; Wang, Lei; Li, Huawei

    2011-12-20

    Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene. We examined the genetic basis of WS2 in a large Chinese family. All 9 exons of the MITF gene, the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced. A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA] in exon 8 of the MITF gene co-segregates with WS2 in the family. The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids. The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G>A]+[235delC] compound heterozygous pathogenic mutation in the GJB2 gene. No pathogenic mutation was found in mtDNA 12S rRNA in this family. Thus, a novel compound heterozygous mutation, c.[742_743delAAinsT;746_747delCA] in MITF exon 8 was the key genetic reason for WS2 in this family, and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband. PMID:22196401

  2. Large group community-based parenting programs for families of preschoolers at risk for disruptive behaviour disorders: utilization, cost effectiveness, and outcome.

    PubMed

    Cunningham, C E; Bremner, R; Boyle, M

    1995-10-01

    A significant percentage of children with disruptive behavior disorders do not receive mental health assistance. Utilization is lowest among groups whose children are at greatest risk. To increase the availability, accessibility, and cost efficacy of parent training programs, this prospective randomized trial compared a large group community-based parent training program to a clinic-based individual parent training (PT) programs. All families of junior kindergartners in the Hamilton public and separate school boards were sent a checklist regarding problems at home. Those returning questionnaires above the 90th percentile were block randomly assigned to: (1) a 12-week clinic-based individual parent training (Clinic/Individual), (2) a 12-week community-based large group parent training (Community/Group), or (3) a waiting list control condition. Immigrant families, those using English as a second language, and parents of children with severe behaviour problems were significantly more likely to enroll in Community/Groups than Clinic/Individual PT. Parents in Community/Groups reported greater improvements in behaviour problems at home and better maintenance of these gains at 6-month follow-up. A cost analysis showed that, with groups of 18 families, Community/Groups are more than six times as cost effective as Clinic/Individual programs. PMID:8847377

  3. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

    PubMed Central

    Pathak, Anand; Seipel, Katja; Pemov, Alexander; Dewan, Ramita; Brown, Christina; Ravichandran, Sarangan; Luke, Brian T.; Malasky, Michael; Suman, Shalabh; Yeager, Meredith; Gatti, Richard A.; Caporaso, Neil E.; Mulvihill, John J.; Goldin, Lynn R.; Pabst, Thomas; McMaster, Mary L.; Stewart, Douglas R.

    2016-01-01

    Familial acute myeloid leukemia is rare and linked to germline mutations in RUNX1, GATA2 or CCAAT/enhancer binding protein-α (CEBPA). We re-evaluated a large family with acute myeloid leukemia originally seen at NIH in 1969. We used whole exome sequencing to study this family, and conducted in silico bioinformatics analysis, protein structural modeling and laboratory experiments to assess the impact of the identified CEBPA Q311P mutation. Unlike most previously identified germline mutations in CEBPA, which were N-terminal frameshift mutations, we identified a novel Q311P variant that was located in the C-terminal bZip domain of C/EBPα. Protein structural modeling suggested that the Q311P mutation alters the ability of the CEBPA dimer to bind DNA. Electrophoretic mobility shift assays showed that the Q311P mu-tant had attenuated binding to DNA, as predicted by the protein modeling. Consistent with these findings, we found that the Q311P mutation has reduced transactivation, consistent with a loss-of-function mutation. From 45 years of follow up, we observed incomplete penetrance (46%) of CEBPA Q311P. This study of a large multi-generational pedigree reveals that a germline mutation in the C-terminal bZip domain can alter the ability of C/EBP-α to bind DNA and reduces transactivation, leading to acute myeloid leukemia. PMID:26721895

  4. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.

    PubMed

    Pathak, Anand; Seipel, Katja; Pemov, Alexander; Dewan, Ramita; Brown, Christina; Ravichandran, Sarangan; Luke, Brian T; Malasky, Michael; Suman, Shalabh; Yeager, Meredith; Gatti, Richard A; Caporaso, Neil E; Mulvihill, John J; Goldin, Lynn R; Pabst, Thomas; McMaster, Mary L; Stewart, Douglas R

    2016-07-01

    Familial acute myeloid leukemia is rare and linked to germline mutations in RUNX1, GATA2 or CCAAT/enhancer binding protein-α (CEBPA). We re-evaluated a large family with acute myeloid leukemia originally seen at NIH in 1969. We used whole exome sequencing to study this family, and conducted in silico bioinformatics analysis, protein structural modeling and laboratory experiments to assess the impact of the identified CEBPA Q311P mutation. Unlike most previously identified germline mutations in CEBPA, which were N-terminal frameshift mutations, we identified a novel Q311P variant that was located in the C-terminal bZip domain of C/EBPα. Protein structural modeling suggested that the Q311P mutation alters the ability of the CEBPA dimer to bind DNA. Electrophoretic mobility shift assays showed that the Q311P mu-tant had attenuated binding to DNA, as predicted by the protein modeling. Consistent with these findings, we found that the Q311P mutation has reduced transactivation, consistent with a loss-of-function mutation. From 45 years of follow up, we observed incomplete penetrance (46%) of CEBPA Q311P. This study of a large multi-generational pedigree reveals that a germline mutation in the C-terminal bZip domain can alter the ability of C/EBP-α to bind DNA and reduces transactivation, leading to acute myeloid leukemia. PMID:26721895

  5. Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21

    SciTech Connect

    Smith, S.A.; Holik, P.; Stevens, J.

    1996-01-15

    The discs-large family is a collection of proteins that have a common structural organization and are thought to be involved in signal transduction and mediating protein-protein interactions at the cytoplasmic surface of the cell membrane. The defining member of this group of proteins is the gene product of the Drosophila lethal (1) discs large (dlg) 1 locus, which was originally identified by the analysis of recessive lethal mutants. Germline mutations in dlg result in loss of apical-basolateral polarity, disruption of normal cell-cell adhesion, and neoplastic overgrowth of the imaginal disc epithelium. We have isolated and characterized a novel human gene, DLG3, that encodes a new member of the discs-large family of proteins. The putative DLG3 gene product has a molecular weight of 66 kDa and contains a discs-large homologous region, an src oncogene homology motif 3, and a domain with homology to guanylate kinase. The DLG3 gene is located on chromosome 17, in the same segment, 17q12-q21, as the related gene, DLG2. The products of the DLG2 and DLG3 genes show 36% identity and 58% similarity to each other, and both show nearly 60% sequence similarity to p55, an erythroid phosphoprotein that is a component of the red cell membrane. We suggest that p55, DLG2, and DLG3 are closely related members of a gene family, whose protein products have a common structural organization and probably a similar function. 25 refs., 3 figs.

  6. First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

    PubMed Central

    2014-01-01

    Background CHEK2 is a multi-cancer susceptibility gene whose common germline mutations are known to contribute to the risk of developing breast and prostate cancer. Case presentation Here, we describe an Italian family with a high number of cases of breast cancer and other types of tumour subjected to the MLPA test to verify the presence of BRCA1, BRCA2 and CHEK2 deletions and duplications. We identified a new 23-kb duplication in the CHEK2 gene extending from intron 5 to 13 that was associated with breast cancer in the family. The presence and localisation of the alteration was confirmed by a second analysis by Next-Generation Sequencing. Conclusions This finding suggests that CHEK2 mutations are heterogeneous and that techniques other than sequencing, such as MLPA, are needed to identify CHEK2 mutations. It also indicates that CHEK2 rare variants, such as duplications, can confer a high susceptibility to cancer development and should thus be studied in depth as most of our knowledge of CHEK2 concerns common mutations. PMID:24986639

  7. Patterns of divergence of a large family of nodule cysteine-rich peptides in accessions of Medicago truncatula

    PubMed Central

    Nallu, Sumitha; Silverstein, Kevin A T; Zhou, Peng; Young, Nevin D; VandenBosch, Kathryn A

    2014-01-01

    The nodule cysteine-rich (NCR) groups of defensin-like (DEFL) genes are one of the largest gene families expressed in the nodules of some legume plants. They have only been observed in the inverted repeat loss clade (IRLC) of legumes, which includes the model legume Medicago truncatula. NCRs are reported to play an important role in plant–microbe interactions. To understand their diversity we analyzed their expression and sequence polymorphisms among four accessions of M. truncatula. A significant expression and nucleotide variation was observed among the genes. We then used 26 accessions to estimate the selection pressures shaping evolution among the accessions by calculating the nucleotide diversity at non-synonymous and synonymous sites in the coding region. The mature peptides of the orthologous NCRs had signatures of both purifying and diversifying selection pressures, unlike the seed DEFLs, which predominantly exhibited purifying selection. The expression, sequence variation and apparent diversifying selection in NCRs within the Medicago species indicates rapid and recent evolution, and suggests that this family of genes is actively evolving to adapt to different environments and is acquiring new functions. PMID:24635121

  8. Topological properties of large-scale structural brain networks in children with familial risk for reading difficulties

    PubMed Central

    Hosseini, S.M. Hadi; Black, Jessica M.; Soriano, Teresa; Bugescu, Nicolle; Martinez, Rociel; Raman, Mira M.; Kesler, Shelli R.; Hoeft, Fumiko

    2013-01-01

    Developmental dyslexia is a neurobiological deficit characterized by persistent difficulty in learning to read in children and adults who otherwise possess normal intelligence. Functional and structural connectivity data suggest that developmental dyslexia could be a disconnection syndrome. However, whether abnormalities in connectivity exist in beginning readers at-risk for reading difficulties is unknown. Using graphtheoretical analysis, we investigated differences in global and regional topological properties of structural brain networks in 42 beginning readers with (FH+) and without (FH−) familial risk for reading difficulties. We constructed separate structural correlation networks based on measures of surface area and cortical thickness. Results revealed changes in topological properties in brain regions known to be abnormal in dyslexia (left supramarginal gyrus, left inferior frontal gyrus) in the FH+ group mainly in the network constructed from measures of cortical surface area. We also found alterations in topological properties in regions that are not often advertised as dyslexia but nonetheless play important role in reading (left posterior cingulate, hippocampus, and left precentral gyrus). To our knowledge, this is the first report of altered topological properties of structural correlation networks in children at risk for reading difficulty, and motivates future studies that examine the mechanisms underlying how these brain networks may mediate the influences of family history on reading outcome. PMID:23333415

  9. Regulatory Patterns of a Large Family of Defensin-Like Genes Expressed in Nodules of Medicago truncatula

    PubMed Central

    Nallu, Sumitha; Silverstein, Kevin A. T.; Samac, Deborah A.; Bucciarelli, Bruna; Vance, Carroll P.; VandenBosch, Kathryn A.

    2013-01-01

    Root nodules are the symbiotic organ of legumes that house nitrogen-fixing bacteria. Many genes are specifically induced in nodules during the interactions between the host plant and symbiotic rhizobia. Information regarding the regulation of expression for most of these genes is lacking. One of the largest gene families expressed in the nodules of the model legume Medicago truncatula is the nodule cysteine-rich (NCR) group of defensin-like (DEFL) genes. We used a custom Affymetrix microarray to catalog the expression changes of 566 NCRs at different stages of nodule development. Additionally, bacterial mutants were used to understand the importance of the rhizobial partners in induction of NCRs. Expression of early NCRs was detected during the initial infection of rhizobia in nodules and expression continued as nodules became mature. Late NCRs were induced concomitantly with bacteroid development in the nodules. The induction of early and late NCRs was correlated with the number and morphology of rhizobia in the nodule. Conserved 41 to 50 bp motifs identified in the upstream 1,000 bp promoter regions of NCRs were required for promoter activity. These cis-element motifs were found to be unique to the NCR family among all annotated genes in the M. truncatula genome, although they contain sub-regions with clear similarity to known regulatory motifs involved in nodule-specific expression and temporal gene regulation. PMID:23573247

  10. Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.

    PubMed

    Pandey, Nishtha; Xavier, Dennis F; Chatterjee, Arunima; Mani, Ram-Shankar; Hiremagalore, Ravi; Tharakan, Ajith; Rajashekhar, B; Anand, Anuranjan

    2016-01-01

    Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity. PMID:26620415

  11. Immunoglobulin Heavy Chain Variable Region and Major Histocompatibility Region Genes Are Linked to Induced Graves' Disease in Females From Two Very Large Families of Recombinant Inbred Mice

    PubMed Central

    Aliesky, Holly; Banuelos, Bianca; Magana, Jessica; Williams, Robert W.; Rapoport, Basil

    2014-01-01

    Graves' hyperthyroidism is caused by antibodies to the TSH receptor (TSHR) that mimic thyroid stimulation by TSH. Stimulating TSHR antibodies and hyperthyroidism can be induced by immunizing mice with adenovirus expressing the human TSHR A-subunit. Prior analysis of induced Graves' disease in small families of recombinant inbred (RI) female mice demonstrated strong genetic control but did not resolve trait loci for TSHR antibodies or elevated serum T4. We investigated the genetic basis for induced Graves' disease in female mice of two large RI families and combined data with earlier findings to provide phenotypes for 178 genotypes. TSHR antibodies measured by inhibition of TSH binding to its receptor were highly significantly linked in the BXD set to the major histocompatibility region (chromosome 17), consistent with observations in 3 other RI families. In the LXS family, we detected linkage between T4 levels after TSHR-adenovirus immunization and the Ig heavy chain variable region (Igvh, chromosome 12). This observation is a key finding because components of the antigen binding region of Igs determine antibody specificity and have been previously linked to induced thyroid-stimulating antibodies. Data from the LXS family provide the first evidence in mice of a direct link between induced hyperthyroidism and Igvh genes. A role for major histocompatibility genes has now been established for genetic susceptibility to Graves' disease in both humans and mice. Future studies using arrays incorporating variation in the complex human Ig gene locus will be necessary to determine whether Igvh genes are also linked to Graves' disease in humans. PMID:25051451

  12. The crystal structure of M. leprae ML2640c defines a large family of putative S-adenosylmethionine-dependent methyltransferases in mycobacteria.

    PubMed

    Graña, Martin; Haouz, Ahmed; Buschiazzo, Alejandro; Miras, Isabelle; Wehenkel, Annemarie; Bondet, Vincent; Shepard, William; Schaeffer, Francis; Cole, Stewart T; Alzari, Pedro M

    2007-09-01

    Mycobacterium leprae protein ML2640c belongs to a large family of conserved hypothetical proteins predominantly found in mycobacteria, some of them predicted as putative S-adenosylmethionine (AdoMet)-dependent methyltransferases (MTase). As part of a Structural Genomics initiative on conserved hypothetical proteins in pathogenic mycobacteria, we have determined the structure of ML2640c in two distinct crystal forms. As expected, ML2640c has a typical MTase core domain and binds the methyl donor substrate AdoMet in a manner consistent with other known members of this structural family. The putative acceptor substrate-binding site of ML2640c is a large internal cavity, mostly lined by aromatic and aliphatic side-chain residues, suggesting that a lipid-like molecule might be targeted for catalysis. A flap segment (residues 222-256), which isolates the binding site from the bulk solvent and is highly mobile in the crystal structures, could serve as a gateway to allow substrate entry and product release. The multiple sequence alignment of ML2640c-like proteins revealed that the central alpha/beta core and the AdoMet-binding site are very well conserved within the family. However, the amino acid positions defining the binding site for the acceptor substrate display a higher variability, suggestive of distinct acceptor substrate specificities. The ML2640c crystal structures offer the first structural glimpses at this important family of mycobacterial proteins and lend strong support to their functional assignment as AdoMet-dependent methyltransferases. PMID:17660248

  13. The crystal structure of M. leprae ML2640c defines a large family of putative S-adenosylmethionine-dependent methyltransferases in mycobacteria

    PubMed Central

    Graña, Martin; Haouz, Ahmed; Buschiazzo, Alejandro; Miras, Isabelle; Wehenkel, Annemarie; Bondet, Vincent; Shepard, William; Schaeffer, Francis; Cole, Stewart T.; Alzari, Pedro M.

    2007-01-01

    Mycobacterium leprae protein ML2640c belongs to a large family of conserved hypothetical proteins predominantly found in mycobacteria, some of them predicted as putative S-adenosylmethionine (AdoMet)-dependent methyltransferases (MTase). As part of a Structural Genomics initiative on conserved hypothetical proteins in pathogenic mycobacteria, we have determined the structure of ML2640c in two distinct crystal forms. As expected, ML2640c has a typical MTase core domain and binds the methyl donor substrate AdoMet in a manner consistent with other known members of this structural family. The putative acceptor substrate-binding site of ML2640c is a large internal cavity, mostly lined by aromatic and aliphatic side-chain residues, suggesting that a lipid-like molecule might be targeted for catalysis. A flap segment (residues 222–256), which isolates the binding site from the bulk solvent and is highly mobile in the crystal structures, could serve as a gateway to allow substrate entry and product release. The multiple sequence alignment of ML2640c-like proteins revealed that the central α/β core and the AdoMet-binding site are very well conserved within the family. However, the amino acid positions defining the binding site for the acceptor substrate display a higher variability, suggestive of distinct acceptor substrate specificities. The ML2640c crystal structures offer the first structural glimpses at this important family of mycobacterial proteins and lend strong support to their functional assignment as AdoMet-dependent methyltransferases. PMID:17660248

  14. Cumulative effects in Swedish EIA practice - difficulties and obstacles

    SciTech Connect

    Waernbaeck, Antoienette Hilding-Rydevik, Tuija

    2009-02-15

    The importance of considering cumulative effects (CE) in the context of environmental assessment is manifested in the EU regulations. The demands on the contents of Environmental Impact Assessment (EIA) and Strategic Environmental Assessment (SEA) documents explicitly ask for CE to be described. In Swedish environmental assessment documents CE are rarely described or included. The aim of this paper is to look into the reasons behind this fact in the Swedish context. The paper describes and analyse how actors implementing the EIA and SEA legislation in Sweden perceive the current situation in relation to the legislative demands and the inclusion of cumulative effects. Through semi-structured interviews the following questions have been explored: Is the phenomenon of CE discussed and included in the EIA/SEA process? What do the actors include in and what is their knowledge of the term and concept of CE? Which difficulties and obstacles do these actors experience and what possibilities for inclusion of CE do they see in the EIA/SEA process? A large number of obstacles and hindrances emerged from the interviews conducted. It can be concluded from the analysis that the will to act does seem to exist. A lack of knowledge in respect of how to include cumulative effects and a lack of clear regulations concerning how this should be done seem to be perceived as the main obstacles. The knowledge of the term and the phenomenon is furthermore quite narrow and not all encompassing. They experience that there is a lack of procedures in place. They also seem to lack knowledge of methods in relation to how to actually work, in practice, with CE and how to include CE in the EIA/SEA process. It can be stated that the existence of this poor picture in relation to practice concerning CE in the context of impact assessment mirrors the existing and so far rather vague demands in respect of the inclusion and assessment of CE in Swedish EIA and SEA legislation, regulations, guidelines and

  15. 'Solo' large terminal repeats (LTR) of an endogenous retrovirus-like gene family (VL30) in the mouse genome.

    PubMed Central

    Rotman, G; Itin, A; Keshet, E

    1984-01-01

    VL30 genetic elements constitute a murine multicopy gene family that is retrovirus-like, despite the lack of sequence homology with any known retrovirus. Over one hundred copies of VL30 units are dispersed throughout the mouse genome. We report here that the mouse genome also contains 'solo' VL30 long terminal repeats (LTRs). These are structures which contain the LTR detached from the rest of the VL30 sequences. The isolation of solo LTRs from a mouse embryonic gene library with the aid of sub-genomic VL30 probes is described. Direct DNA sequencing established that the solo LTR unit is grossly similar to a standard VL30 LTR and that the LTR is flanked by a 4-base pair duplication. The analogy to the occurrence of solitary LTR units of transposable elements is discussed. Images PMID:6324110

  16. Swedish Chemists and Discovery of the Elements

    NASA Astrophysics Data System (ADS)

    Thomsen, Volker

    1996-10-01

    All of the elements not already known from antiquity were discovered in Europe and North America. So which country ranks number one on the discovery list? The question occurred to me while leafing through reference 1 in search of thermodynamic data on silicon. Never having seen such a tabulation, I wondered if it might prove useful in teaching. The question has a sports-related flavor that will appeal to many students. Personally, I picked England or Germany for #1. The actual result is surprising. The ranking considering only up to atomic number 103 is as follows: Note: Where two or more independent discoveries have been made, each country is credited. In the "others" category Austria and Denmark each has two discoveries. The remaining countries, with one each, are Finland, Italy, Mexico, Poland, Romania, Russia, and Spain. The high place for the USA is primarily due to the work done at Berkeley and Los Alamos on the transuranics. Without these discoveries, the US would have tied with Switzerland at three elements. Perhaps the most interesting aspect of this tabulation is that Swedish chemists have discovered the most elements. Four chemists alone account for twelve of the 20 discoveries: Baron Jöns Jakob Berzelius (1779-1848) is credited with four elements. His pupil, friend, and assistant, Carl Gustav Mosander (1797-1858) discovered three. P. T. Cleve also found three elements and Karl Wilhelm Scheele (1742-1786) discovered two. Biographical research on the Swedish chemists is a suitable assignment at the introductory level. Reasons for the predominance of Swedish chemists presents a challenging student research topic in the history of chemistry. Another interesting question at the introductory level is, transuranics aside, who discovered the most elements? At the more advanced level the question becomes, why? Literature Cited: 1. Emsley, J. The Elements; Clarendon: Oxford, 1989.

  17. Swedish dairy farmers' perceptions of animal-related injuries.

    PubMed

    Lindahl, Cecilia; Lundqvist, Peter; Norberg, Annika Lindahl

    2012-01-01

    Animal-related injuries are among the most common occupational injuries in agriculture. Despite the large number of documented animal-related injuries in dairy farming, the issue has received relatively limited attention in the scientific literature. The farmers' own perspectives and views on risks and safety during livestock handling and what they think are effective ways of preventing injuries are valuable for the future design of effective interventions. This paper presents results from a qualitative study with the aim to investigate Swedish dairy farmers' own experience of animal-related occupational injuries, as well as their perceptions of and attitudes towards them, including risk and safety issues, and prevention measures. A total of 12 dairy farmers with loose housing systems participated in the study. Data collection was conducted by means of semistructured in-depth interviews. Three main themes with an impact on risks and safety when handling cattle were identified: the handler, the cattle, and the facilities. They all interact with each other, influencing the potential risks of any work task. Most of the farmers believed that a majority of the injuries can be prevented, but there are always some incidents that are impossible to foresee. In conclusion, this study indicates that Swedish dairy farmers are aware of the dangers from working with cattle. However, even though safety is acknowledged by the farmers as an important and relevant issue, in the end safety is often forgotten or not prioritized. One concern is that farmers are willing to take calculated risks to save money or time. In situations where they work alone with high stress levels and under economic distress, safety issues are easily given low priority. PMID:22994638

  18. Prenatal Phthalate Exposures and Anogenital Distance in Swedish Boys

    PubMed Central

    Carlstedt, Fredrik; Jönsson, Bo AG.; Lindh, Christian H.; Jensen, Tina K.; Bodin, Anna; Jonsson, Carin; Janson, Staffan; Swan, Shanna H.

    2014-01-01

    Background: Phthalates are used as plasticizers in soft polyvinyl chloride (PVC) and in a large number of consumer products. Because of reported health risks, diisononyl phthalate (DiNP) has been introduced as a replacement for di(2-ethylhexyl) phthalate (DEHP) in soft PVC. This raises concerns because animal data suggest that DiNP may have antiandrogenic properties similar to those of DEHP. The anogenital distance (AGD)—the distance from the anus to the genitals—has been used to assess reproductive toxicity. Objective: The objective of this study was to examine the associations between prenatal phthalate exposure and AGD in Swedish infants. Methods: AGD was measured in 196 boys at 21 months of age, and first-trimester urine was analyzed for 10 phthalate metabolites of DEP (diethyl phthalate), DBP (dibutyl phthalate), DEHP, BBzP (benzylbutyl phthalate), as well as DiNP and creatinine. Data on covariates were collected by questionnaires. Results: The most significant associations were found between the shorter of two AGD measures (anoscrotal distance; AGDas) and DiNP metabolites and strongest for oh-MMeOP [mono-(4-methyl-7-hydroxyloctyl) phthalate] and oxo-MMeOP [mono-(2-ethyl-5-oxohexyl) phthalate]. However, the AGDas reduction was small (4%) in relation to more than an interquartile range increase in DiNP exposure. Conclusions: These findings call into question the safety of substituting DiNP for DEHP in soft PVC, particularly because a shorter male AGD has been shown to relate to male genital birth defects in children and impaired reproductive function in adult males and the fact that human levels of DiNP are increasing globally. Citation: Bornehag CG, Carlstedt F, Jönsson BA, Lindh CH, Jensen TK, Bodin A, Jonsson C, Janson S, Swan SH. 2015. Prenatal phthalate exposures and anogenital distance in Swedish boys. Environ Health Perspect 123:101–107; http://dx.doi.org/10.1289/ehp.1408163 PMID:25353625

  19. The Swedish Space Science programme - technical aspects

    NASA Astrophysics Data System (ADS)

    Lundahl, Kaj

    2001-08-01

    The Swedish Space Science programme comprises sounding rockets, balloons and satellites. The investigations relate to geophysical disciplines, astrophysics and microgravity research. Current and future scientific projects using sounding rockets, balloons and satellites are planned for investigation of the Earth's atmosphere, the aurora and its origin, submillimeter observations of interstellar medium and fluid physics. These investigations require increased technical capabilities with respect to payload design and ground based equipment. A GPS system for real time trajectory determination and a hybrid propulsion system are two examples in the technical development program.

  20. Mathematical Reasoning Requirements in Swedish Upper Secondary Level Assessments

    ERIC Educational Resources Information Center

    Palm, Torulf; Boesen, Jesper; Lithner, Johan

    2011-01-01

    We investigate the mathematical reasoning required to solve the tasks in the Swedish national tests and a random selection of Swedish teacher-made tests. The results show that only a small proportion of the tasks in the teacher-made tests require the students to produce new reasoning and to consider the intrinsic mathematical properties involved…

  1. Preschool Education and Day Care for Swedish Children.

    ERIC Educational Resources Information Center

    Mueller, Jeanne

    A comprehensive study of the types of care provided for Swedish children is presented. The point is made that the three major frameworks which support the Swedish philosophy of early childhood education are those of Arnold Gesell, Jean Piaget, and Erik H. Erikson. From all three sources, preschool teachers learn the concept of epigenesis, the…

  2. National Curriculum Assessment in England--A Swedish Perspective

    ERIC Educational Resources Information Center

    Wikstrom, Christina

    2009-01-01

    In this commentary, the author discusses some of the issues she finds interesting from a Swedish perspective, and also makes some comparisons between the systems. The English and Swedish education and assessment systems have some fundamental differences, but also similarities. Some are becoming even more evident after learning about the…

  3. Swedish Immersion in the Early Years in Finland

    ERIC Educational Resources Information Center

    Björklund, Siv; Mård-Miettinen, Karita; Savijärvi, Marjo

    2014-01-01

    Immersion education in Finland is a one-way (monolingual) early total Swedish programme for Finnish-speaking students. This immersion provision is offered at kindergarten level (ages 3-5), at preschool (age 6) and at primary levels (grades 1-9). Here, a brief synthesis of Finnish research studies on the early years in Swedish immersion is first…

  4. Imperatives for "Right" Educational Choices in Swedish Educational Policy

    ERIC Educational Resources Information Center

    Puaca, Goran

    2014-01-01

    The present article is based on a critical semiotic investigation of the Swedish Long-Term Survey on economic development. It aims to examine how recent Swedish policy trends bring specific economic, political and social processes together to form a system of meaning for both motivation and regulation over individuals' educational choices.…

  5. Capacity Building for School Gardening: A Swedish Case Study

    ERIC Educational Resources Information Center

    Akerblom, Petter

    2005-01-01

    This article reflects on experiences from Swedish research on school gardening and greening school grounds. A process-orientated case study in two Swedish cities is discussed, based on future workshops as a platform for situated capacity building in interaction between stakeholders in the in-school context and stakeholders from outside the local…

  6. Swedish Support to Non-Formal Adult Education Programmes.

    ERIC Educational Resources Information Center

    Swedish International Development Authority (SIDA).

    This document presents an overview of support for economic development provided by the Swedish government to a variety of nonformal adult education programs in developing nations (mostly in Africa). The four sections of the report provide details of the following: (1) scope, objectives, and methods of Swedish development cooperation; (2) the…

  7. Lingual Electromyography Related to Tongue Movements in Swedish Vowel Production.

    ERIC Educational Resources Information Center

    Hirose, Hajime; And Others

    1979-01-01

    In order to investigate the articulatory dynamics of the tongue in the production of Swedish vowels, electromyographic (EMG) and X-ray microbeam studies were performed on a native Swedish subject. The EMG signals were used to obtain average indication of the muscle activity of the tongue as a function of time. (NCR)

  8. The Position of the Deaf in the Swedish Labor Market

    ERIC Educational Resources Information Center

    Rydberg, Emelie; Gellerstedt, Lotta Coniavitis; Danermark, Berth

    2010-01-01

    The position of deaf people in the Swedish labor market is described and analyzed. A population of 2,144 people born from 1941 to 1980 who attended special education programs for the deaf was compared to 100,000 randomly chosen individuals from the total Swedish population born during the same period. Data on these individuals consisted of…

  9. Teachers' Pedagogical Mathematical Awareness in Swedish Early Childhood Education

    ERIC Educational Resources Information Center

    Björklund, Camilla; Barendregt, Wolmet

    2016-01-01

    Revised guidelines for Swedish early childhood education that emphasize mathematics content and competencies in more detail than before raise the question of the status of pedagogical mathematical awareness among Swedish early childhood teachers. The purpose of this study is to give an overview of teachers' current pedagogical mathematical…

  10. Parental Expectations of the Swedish Municipal School of Arts

    ERIC Educational Resources Information Center

    Lilliedahl, Jonathan; Georgii-Hemming, Eva

    2009-01-01

    This article draws on a study designed to analyse parental expectations of the Swedish municipal school of arts (hereafter MSA) (in Swedish: kommunal musik- och kulturskola). The study is based on in-depth interviews conducted and informed by grounded theory. Although parental expectations are scarcely uniform, the study reveals a hope that the…

  11. English as an Academic Language at a Swedish University: Parallel Language Use and the "Threat" of English

    ERIC Educational Resources Information Center

    Bolton, Kingsley; Kuteeva, Maria

    2012-01-01

    In recent years, universities across Europe have increasingly adopted the use of English as an academic lingua franca. Our article discusses current trends in Swedish higher education by presenting the results of a large-scale survey on the use of English conducted at Stockholm University. The survey involved 668 staff and 4524 students and…

  12. Outcomes of Family Group Conferencing in Sweden

    ERIC Educational Resources Information Center

    Sundell, Knut; Vinnerljung, Bo

    2004-01-01

    Objective: Between 1995 and 1997, the Swedish Association of Local Authorities implemented Family Group Conferences (FGC) in 10 local authorities throughout Sweden. This study reports on client outcomes of this implementation. Method: 97 children involved in 66 FGCs between November 1996 and October 1997 were compared with 142 children from a…

  13. Correlated Si isotope anomalies and large C-13 enrichments in a family of exotic SiC grains

    NASA Technical Reports Server (NTRS)

    Stone, J.; Hutcheon, I. D.; Epstein, S.; Wasserburg, G. J.

    1991-01-01

    A hypothesis is presented to the effect that the distinctive morphological characteristics and comparatively simple Si isotope systematics identify the platy SiC crystals as a genetically related family, formed around a single isotopically heterogeneous presolar star on an association of related stars. The enrichments in C-13 and the Si isotope systematics of the platy SiC are broadly consistent with theoretical models of nucleosynthesis in low-mass, carbon stars on the ASG. The Si isotope array most plausibly reflects mixing between (Si-28)-rich material, inherited from a previous generation of stars, and material enriched in Si-29 and Si-30, produced in intershell regions by neutron capture during He-burning. The absence of a correlation between the Si and C isotopic compositions of the SiC suggests either episodic condensation of SiC, extending over several thermal pulses, in the atmosphere of a single star, or the derivation of the SiC from several stars characterized by different rates of C-13 production.

  14. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

    PubMed Central

    Ulucan, Hakan; Gül, Davut; Sapp, Julie C; Cockerham, John; Johnston, Jennifer J; Biesecker, Leslie G

    2008-01-01

    Background Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance. Methods Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the EVC/EVC2 locus. The results did not exclude linkage, so samples were sequenced for mutations. Results We identified a c.1868T>C mutation in EVC, which predicts p.L623P, and was homozygous in affected individuals. Conclusion We conclude that this EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. EVC mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome. PMID:18947413

  15. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.

    PubMed

    Giaglis, S; Papadopoulos, V; Kambas, K; Doumas, M; Tsironidou, V; Rafail, S; Kartalis, G; Speletas, M; Ritis, K

    2007-05-01

    Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting bouts of fever and serositis and caused by altered pyrin due to mutated MEFV gene. FMF is common in the Mediterranean Basin populations, although with varying genetic patterns. The spectrum and clinical significance of MEFV alterations in Greece has yet not been elucidated. The aim of this study was to analyze the spectrum of MEFV alterations in FMF patients and healthy individuals in Greece. A cohort of 152 Greek FMF patients along with 140 Greek healthy controls was enrolled. Non-isotopic RNase cleavage assay (NIRCA) and sequencing allowed mutational and haplotypic analysis of the entire coding sequence of MEFV. The ARLEQUIN 2.0, DNASP 4.0 and PHYLIP software were used for population genetics analysis. Among patients, 127 (83.6%) carried at least one known mutation. The most common mutations identified were M694V (38.1%), M680I (19.7%), V726A (12.2%), E148Q (10.9%) and E230K (6.1%). The total carrier rate among healthy individuals was 0.7%. The presence of R202Q homozygosity in 12 of the remaining 25 MEFV negative FMF patients might be considered as disease related in Greeks. Population genetics analysis revealed that Greeks rely closer to the eastern rather than western populations of the Mediterranean Basin. PMID:17489852

  16. A large family of putative transmembrane receptors homologous to the product of the Drosophila tissue polarity gene frizzled.

    PubMed

    Wang, Y; Macke, J P; Abella, B S; Andreasson, K; Worley, P; Gilbert, D J; Copeland, N G; Jenkins, N A; Nathans, J

    1996-02-23

    In Drosophila melanogaster, the frizzled gene plays an essential role in the development of tissue polarity as assessed by the orientation of cuticular structures. Through a combination of random cDNA sequencing, degenerate polymerase chain reaction amplification, and low stringency hybridization we have identified six novel frizzled homologues from mammals, at least 11 from zebrafish, several from chicken and sea urchin, and one from Caenorhabditis elegans. The complete deduced amino acid sequences of the mammalian and nematode homologues share with the Drosophila frizzled protein a conserved amino-terminal cysteine-rich domain and seven putative transmembrane segments. Each of the mammalian homologues is expressed in a distinctive set of tissues in the adult, and at least three are expressed during embryogenesis. As hypothesized for the Drosophila frizzled protein, the frizzled homologues are likely to act as transmembrane receptors for as yet unidentified ligands. These observations predict the existence of a family of signal transduction pathways that are homologous to the pathway that determines tissue polarity in Drosophila. PMID:8626800

  17. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

    SciTech Connect

    Orstavik, K.H.; Orstavik, R.E.; Eiklid, K.; Tranebjaerg, L.

    1996-07-12

    A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaeerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome. We examined X chromosome inactivation in 8 obligate and 12 possible carriers by using a polymerase chain reaction analysis of the methylation-dependent amplification of the polymorphic triplet repeat at the androgen receptor locus. Seven of 8 obligate carriers and 1 of 5 carriers by linkage analysis had an extremely skewed pattern in blood DNA not found in 30 normal females. The X inactivation pattern in fibroblast DNA from 2 of the carriers with the extremely skewed pattern was also skewed but to a lesser degree than in blood DNA. One obligate carrier had a random X inactivation pattern in both blood and fibroblast DNA. A selection mechanism for the skewed pattern is therefore not likely. The extremely skewed X inactivation in 8 females of 3 generations in this family may be caused by a single gene that influences skewing of X chromosome inactivation. 22 refs., 2 figs., 1 tab.

  18. The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis

    PubMed Central

    Kim, Sung-Jo; Kang, Sun-Yang; Yi, Jin Woong; Kim, Seung-Min

    2014-01-01

    Purpose Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and hypokalemia. Mutations in the calcium channel gene, CACNA1S, or the sodium channel gene, SCN4A, have been found to be responsible for HOKPP; however, the mechanism that causes hypokalemia remains to be determined. The aim of this study was to improve the understanding of this mechanism by investigating the expression of calcium-activated potassium (KCa) channel genes in HOKPP patients. Methods We measured the intracellular calcium concentration with fura-2-acetoxymethyl ester in skeletal muscle cells of HOKPP patients and healthy individuals. We examined the mRNA and protein expression of KCa channel genes (KCNMA1, KCNN1, KCNN2, KCNN3, and KCNN4) in both cell types. Results Patient cells exhibited higher cytosolic calcium levels than normal cells. Quantitative reverse transcription polymerase chain reaction analysis showed that the mRNA levels of the KCa channel genes did not significantly differ between patient and normal cells. However, western blot analysis showed that protein levels of the KCNMA1 gene, which encodes KCa1.1 channels (also called big potassium channels), were significantly lower in the membrane fraction and higher in the cytosolic fraction of patient cells than normal cells. When patient cells were exposed to 50 mM potassium buffer, which was used to induce depolarization, the altered subcellular distribution of BK channels remained unchanged. Conclusion These findings suggest a novel mechanism for the development of hypokalemia and paralysis in HOKPP and demonstrate a connection between disease-associated mutations in calcium/sodium channels and pathogenic changes in nonmutant potassium channels. PMID:25379045

  19. Neuropsychological profile of a large kindred with familial Alzheimer's disease caused by the E280A single presenilin-1 mutation.

    PubMed

    Ardila, A; Lopera, F; Rosselli, M; Moreno, S; Madrigal, L; Arango-Lasprilla, J C; Arcos, M; Murcia, C; Arango-Viana, J C; Ossa, J; Goate, A; Kosik, K S

    2000-08-01

    It was hypothesized that subjective memory complaints represent the earliest sign of dementia in carriers of the presenilin-1 (PS1) mutation. A total of 122 subjects (44 males, 78 females) were included in this study. Forty of them were positive for the mutation in the PS1 gene (mutation positive, MP) whereas 82 showed negative results (mutation negative, MN). Subjects were active, functionally normal, even though some of them complained of memory difficulties. Two groups of neuropsychological instruments were administered: (a) The Consortium to Establish a Registry for Alzheimer's Disease (CERAD) neuropsychological test battery (Morris et al., 1989), and (b) some additional neuropsychological tests (Raven Test, Wechsler Memory Scale, Rey-Osterrieth Complex Figure, Boston Naming Test, Naming of Categories, Boston Diagnostic Aphasia Examination, Memory of Three Phrases, Knopman Test, Digit Symbol, and Visual "A" Cancellation Test). Performance in both groups was quite similar. In a secondary analysis, the MP group was subdivided into two subgroups: without and with memory complaints. When comparing both subgroups, a better performance in the first subgroup was found throughout the different subtests. Statistically significant differences were observed in the following test scores: Mini-Mental State Examination, Naming Test (Low Frequency), Memory of Words Test, Recall of Drawings, Wechsler Memory Scale (Logical Memory, Associative Learning, and Total Score), Rey-Osterrieth Complex Figure (Immediate Recall Condition), Boston Diagnostic Aphasia Examination (Complex Ideational Material Subtest), Memory of Three Phrases Test, Serial Verbal Learning (maximum score and Delayed Recall), Knopman Test (First Trial, Second Trial, and Recall after 5 Minutes), Digit Symbol, and Visual "A" Cancellation Test (Additions). Results supported the hypothesis that memory complaints represent the earliest symptom of familial Alzheimer's disease. In addition to the memory difficulties

  20. Minneapolis Multi-Ethnic Curriculum Project--Family Unit.

    ERIC Educational Resources Information Center

    Skjervold, Christian K.; And Others

    The student booklet presents short case studies illustrating the family unit of the Minneapolis Multi-Ethnic Curriculum Project for secondary schools. Thirteen brief chapters describe family life and patterns of different ethnic groups in the United States. They present stories of individuals in groups such as Puerto Ricans, Swedish Americans,…

  1. IQ and Schizophrenia in a Swedish National Sample: Their Causal Relationship and the Interaction of IQ with Genetic Risk

    PubMed Central

    Kendler, Kenneth S.; Ohlsson, Henrik; Sundquist, Jan; Sundquist, Kristina

    2015-01-01

    Objective To clarify the relationship between IQ and subsequent risk for schizophrenia. Method IQ was assessed at ages 18-20 in 1,204,983 Swedish males born 1951-1975. Schizophrenia was assessed by hospital diagnosis through 2010. Results IQ had a monotonic relationship with schizophrenia risk across the IQ range with a mean change of 3.8% in risk per IQ point. This association, stronger in the lower versus higher IQ range, was similar if onsets within five years of testing were censored. No increased risk for schizophrenia was seen in those with highest intelligence. Co-relative control analyses showed a similar IQ-schizophrenia association in the general population and in cousin, half-sibling and full-sibling pairs. A robust interaction was seen between genetic liability to schizophrenia and IQ in predicting schizophrenia risk. Genetic susceptibility for schizophrenia had a much stronger impact on risk of illness for those with low versus high intelligence. The IQ-genetic liability interaction arose largely from IQ differences between close relatives. Conclusions IQ assessed in late adolescence is a robust risk factor for subsequent onset of schizophrenia. This association is not the result of a declining IQ associated with insidious onset. In this large, representative sample, we found no evidence for a link between genius and schizophrenia. Co-relative control analyses show that the association between lower IQ and schizophrenia is not the result of shared familial risk factors and may be causal. The strongest effect was seen with IQ differences within families. High intelligence substantially attenuates the impact of genetic liability on the risk for schizophrenia. PMID:25727538

  2. Benefits negotiation: three Swedish hospitals pursuit of potential electronic health record benefits.

    PubMed

    Jeansson, John S

    2013-01-01

    At the very heart of Swedish healthcare digitalisation are large investments in electronic health records (EHRs). These integrated information systems (ISs) carry promises of great benefits and value for organisations. However, realising IS benefits and value has, in general, proven to be a challenging task, and as organisations strive to formalise their realisation efforts a misconception of rationality threatens to emerge. This misconception manifests itself when the formality of analysis threatens to underrate the impact of social processes in deciding which potential benefits to pursue. This paper suggests that these decisions are the result of a social process of negotiation. The purpose of this paper is to observe three benefits analysis projects of three Swedish hospitals to better understand the character and management of proposed benefits negotiations. Findings depict several different categories of benefits negotiations, as well as key factors to consider during the benefits negotiation process. PMID:24191344

  3. The Swedish CArdioPulmonary BioImage Study: objectives and design.

    PubMed

    Bergström, G; Berglund, G; Blomberg, A; Brandberg, J; Engström, G; Engvall, J; Eriksson, M; de Faire, U; Flinck, A; Hansson, M G; Hedblad, B; Hjelmgren, O; Janson, C; Jernberg, T; Johnsson, Å; Johansson, L; Lind, L; Löfdahl, C-G; Melander, O; Östgren, C J; Persson, A; Persson, M; Sandström, A; Schmidt, C; Söderberg, S; Sundström, J; Toren, K; Waldenström, A; Wedel, H; Vikgren, J; Fagerberg, B; Rosengren, A

    2015-12-01

    Cardiopulmonary diseases are major causes of death worldwide, but currently recommended strategies for diagnosis and prevention may be outdated because of recent changes in risk factor patterns. The Swedish CArdioPulmonarybioImage Study (SCAPIS) combines the use of new imaging technologies, advances in large-scale 'omics' and epidemiological analyses to extensively characterize a Swedish cohort of 30 000 men and women aged between 50 and 64 years. The information obtained will be used to improve risk prediction of cardiopulmonary diseases and optimize the ability to study disease mechanisms. A comprehensive pilot study in 1111 individuals, which was completed in 2012, demonstrated the feasibility and financial and ethical consequences of SCAPIS. Recruitment to the national, multicentre study has recently started. PMID:26096600

  4. Caries, Periodontal Disease, Supernumerary Teeth and Other Dental Disorders in Swedish Wild Boar (Sus scrofa).

    PubMed

    Malmsten, A; Dalin, A-M; Pettersson, A

    2015-07-01

    Between January and December 2013, the dental and periodontal health of 99 Swedish wild boars (Sus scrofa) was investigated. Sampling occurred in conjunction with routine hunting at six large estates in the southern and middle parts of Sweden. All six of the estates use supplemental feeding. The weight of the animals, their sex and their dates of death were noted. Age was estimated using tooth eruption and tooth replacement patterns. The oral cavity was inspected and abnormalities were recorded on a dental chart modified for wild boars. The findings included supernumerary teeth, absence of teeth, mild class II malocclusion, severe tooth wear, periodontitis, calculus, caries, tooth fractures and the presence of enamel defects. Swedish wild boars suffer from different dental lesions and the impact of supplemental feeding on dental and periodontal health is still to be investigated. PMID:25979683

  5. A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer

    PubMed Central

    Anselmo, João; Medeiros, Sandra; Carneiro, Victor; Greene, Elizabeth; Levy, Isaac; Nesterova, Maria; Lyssikatos, Charalampos; Horvath, Anelia; Carney, J. Aidan

    2012-01-01

    Context: Most tumors in Carney complex (CNC) are benign, including primary pigmented nodular adrenocortical disease (PPNAD), the main endocrine tumor in CNC. Adrenocortical cancer (AC) has never been observed in the syndrome. Herein, we describe a large Azorean family with CNC caused by a point mutation in the PRKAR1A gene coding for type 1-α (RIα) regulatory subunit of the cAMP-dependent protein kinase A, in which the index patient presented with AC. Objective: We studied the genotype-phenotype correlation in CNC. Design and Setting: We reported on case series and in vitro testing of the PRKAR1A mutation in a tertiary care referral center. Patients: Twenty-two members of a family were investigated for Cushing syndrome and other CNC components; their DNA was sequenced for PRKAR1A mutations. Results: Cushing syndrome due to PPNAD occurred in four patients, including the proposita who presented with AC and three who had Cushing syndrome and/or PPNAD. Lentigines were found in six additional patients who did not have PPNAD. A base substitution (c.439A>G/p.S147G) in PRKAR1A was identified in the proposita, in the three others with PPNAD, in the proposita's twin daughters who had lentigines but no evidence of hypercortisolism, and in five other family members, including one without lentigines or evidence of hypercortisolism. Unlike in other RIα defects, loss of heterozygosity was not observed in AC. The S147G mutation was compared to other expressed PRKAR1A mutations; it led to decreased cAMP and catalytic subunit binding by RIα and increased protein kinase A activity in vitro. Conclusions: In a large family with CNC, one amino acid substitution caused a spectrum of adrenal disease that ranged from lack of manifestations to cancer. PPNAD and AC were the only manifestations of CNC in these patients, in addition to lentigines. These data have implications for counseling patients with CNC and are significant in documenting the first case of AC in the context of PPNAD

  6. Comparison of autoantibody specificities between traditional and bead-based assays in a large, diverse collection of SLE patients and family members

    PubMed Central

    Bruner, Benjamin F.; Guthridge, Joel M.; Lu, Rufei; Vidal, Gabriel; Kelly, Jennifer A.; Robertson, Julie M.; Kamen, Diane L.; Gilkeson, Gary S.; Neas, Barbara R.; Reichlin, Morris; Scofield, R. Hal; Harley, John B.; James, Judith A.

    2012-01-01

    Objective The replacement of standard immunofluorescence anti-nuclear antibody (ANA) methods with bead-based assays is a new clinical option. A large, multi-racial cohort of SLE patients, blood relatives and unaffected control individuals was evaluated for familial aggregation and subset clustering of autoantibodies by high-throughput serum screening technology and traditional methods. Methods Serum samples (1,540 SLE patients, 1,127 unaffected relatives, and 906 healthy, population-based controls) were analyzed for SLE autoantibodies using a bead-based assay, immunofluorescence, and immunodiffusion. Autoantibody prevalence, disease sensitivity, clustering, and association with standard immunodiffusion results were evaluated. Results ANA frequency in SLE patient sera were 89%, 73%, and 67% by BioPlex 2200 and 94%, 84%, and 86% by immunofluorescence in African-American, Hispanic, and European-American patients respectively. 60kD Ro, La, Sm, nRNP A, and ribosomal P prevalence were compared across assays, with sensitivities ranging from 0.92 to 0.83 and specificities ranging from 0.90 to 0.79. Cluster autoantibody analysis showed association of three subsets: 1) 60kD Ro, 52kD Ro and La, 2) spliceosomal proteins, and 3) dsDNA, chromatin, and ribosomal P. Familial aggregation of Sm/RNP, ribosomal P, and 60kD Ro in SLE patient sibling pairs was observed (p ≤ 0.004). Simplex pedigree patients had a greater prevalence for dsDNA (p=0.0003) and chromatin (p=0.005) autoantibodies than multiplex patients. Conclusion ANA frequencies detected by a bead-based assay are lower in European-American SLE patients compared to immunofluorescence. These assays have strong positive predictive values across racial groups, provide useful information for clinical care, and provide unique insights to familial aggregation and autoantibody clustering. PMID:23112091

  7. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

    PubMed

    Harel, Tamar; Goldberg, Yael; Shalev, Stavit A; Chervinski, Ilana; Ofir, Rivka; Birk, Ohad S

    2004-01-01

    Limb-girdle muscular dystrophies (LGMDs) represent a group of diseases characterized mainly by muscle wasting of the upper and lower limbs, with a wide range of clinical severity. The clinical heterogeneity is paralleled by molecular heterogeneity; each of the 10 forms of autosomal-recessive LGMD recognized to date is caused by mutations in a distinct gene. In a large consanguineous Bedouin tribe living in northern Israel, 15 individuals affected by LGMD demonstrate an autosomal recessive pattern of inheritance. A genome-wide screen followed by fine mapping in this family revealed linkage to a region on chromosome 19 harboring the fukutin-related protein gene (FKRP), with a maximal LOD score of 4.8 for D19S902. FKRP, encoding a putative glycosyltransferase, has been implicated in causing congenital muscular dystrophy 1C (MDC1C), and has recently been shown to be mutated in LGMD2I. We identified a novel missense mutation in exon 4 of the FKRP gene in all the patients studied. Although all affected individuals were homozygous for the same mutation, a marked phenotypic variability was apparent within the family. This finding may suggest a role of modifier genes and environmental factors in LGMD2I. Moreover, the demonstration that an identical, novel mutation in the FKRP gene can cause a muscle disease of either a congenital onset or of a later onset within a single family provides clinical support to the molecular evidence, suggesting that MDC1C and LGMD2I are overlapping ends of one and the same entity. PMID:14523375

  8. A Large Family of AvrLm6-like Genes in the Apple and Pear Scab Pathogens, Venturia inaequalis and Venturia pirina

    PubMed Central

    Shiller, Jason; Van de Wouw, Angela P.; Taranto, Adam P.; Bowen, Joanna K.; Dubois, David; Robinson, Andrew; Deng, Cecilia H.; Plummer, Kim M.

    2015-01-01

    Venturia inaequalis and V. pirina are Dothideomycete fungi that cause apple scab and pear scab disease, respectively. Whole genome sequencing of V. inaequalis and V. pirina isolates has revealed predicted proteins with sequence similarity to AvrLm6, a Leptosphaeria maculans effector that triggers a resistance response in Brassica napus and B. juncea carrying the resistance gene, Rlm6. AvrLm6-like genes are present as large families (>15 members) in all sequenced strains of V. inaequalis and V. pirina, while in L. maculans, only AvrLm6 and a single paralog have been identified. The Venturia AvrLm6-like genes are located in gene-poor regions of the genomes, and mostly in close proximity to transposable elements, which may explain the expansion of these gene families. An AvrLm6-like gene from V. inaequalis with the highest sequence identity to AvrLm6 was unable to trigger a resistance response in Rlm6-carrying B. juncea. RNA-seq and qRT-PCR gene expression analyses, of in planta- and in vitro-grown V. inaequalis, has revealed that many of the AvrLm6-like genes are expressed during infection. An AvrLm6 homolog from V. inaequalis that is up-regulated during infection was shown (using an eYFP-fusion protein construct) to be localized to the sub-cuticular stroma during biotrophic infection of apple hypocotyls. PMID:26635823

  9. A Large Family of AvrLm6-like Genes in the Apple and Pear Scab Pathogens, Venturia inaequalis and Venturia pirina.

    PubMed

    Shiller, Jason; Van de Wouw, Angela P; Taranto, Adam P; Bowen, Joanna K; Dubois, David; Robinson, Andrew; Deng, Cecilia H; Plummer, Kim M

    2015-01-01

    Venturia inaequalis and V. pirina are Dothideomycete fungi that cause apple scab and pear scab disease, respectively. Whole genome sequencing of V. inaequalis and V. pirina isolates has revealed predicted proteins with sequence similarity to AvrLm6, a Leptosphaeria maculans effector that triggers a resistance response in Brassica napus and B. juncea carrying the resistance gene, Rlm6. AvrLm6-like genes are present as large families (>15 members) in all sequenced strains of V. inaequalis and V. pirina, while in L. maculans, only AvrLm6 and a single paralog have been identified. The Venturia AvrLm6-like genes are located in gene-poor regions of the genomes, and mostly in close proximity to transposable elements, which may explain the expansion of these gene families. An AvrLm6-like gene from V. inaequalis with the highest sequence identity to AvrLm6 was unable to trigger a resistance response in Rlm6-carrying B. juncea. RNA-seq and qRT-PCR gene expression analyses, of in planta- and in vitro-grown V. inaequalis, has revealed that many of the AvrLm6-like genes are expressed during infection. An AvrLm6 homolog from V. inaequalis that is up-regulated during infection was shown (using an eYFP-fusion protein construct) to be localized to the sub-cuticular stroma during biotrophic infection of apple hypocotyls. PMID:26635823

  10. Excess mortality among Swedish chimney sweeps.

    PubMed Central

    Gustavsson, P; Gustavsson, A; Hogstedt, C

    1987-01-01

    In a cohort study of 5464 union organised Swedish chimney sweeps employed at any time between 1918 and 1980 mortality was studied from 1951 to 1982 with national statistics used as a reference. Follow up was possible for 98.6% of the individuals: 717 deaths were observed against 540 expected. There was an increased mortality from coronary heart disease, respiratory diseases, and several types of malignant tumours. Lung cancer mortality was significantly increased and positively correlated to the number of years employed. A fivefold risk increase for oesophageal cancer and liver cancer was found. The increased mortality could be attributed to exposure to combustion products in the work environment but not to smoking habits. PMID:3689705

  11. Genetic contribution to postpartum haemorrhage in Swedish population: cohort study of 466 686 births

    PubMed Central

    Hernandéz-Diaź, Sonia; Frisell, Thomas; Greene, Michael F; Almqvist, Catarina; Bateman, Brian T

    2014-01-01

    Objective To investigate the familial clustering of postpartum haemorrhage in the Swedish population, and to quantify the relative contributions of genetic and environmental effects. Design Register based cohort study. Setting Swedish population (multi-generation and medical birth registers). Main outcome measure Postpartum haemorrhage, defined as >1000 mL estimated blood loss. Participants The first two live births to individuals in Sweden in 1997-2009 contributed to clusters representing intact couples (n=366 350 births), mothers with separate partners (n=53 292), fathers with separate partners (n=47 054), sister pairs (n=97 228), brother pairs (n=91 168), and mixed sibling pairs (n=177 944). Methods Familial clustering was quantified through cluster specific tetrachoric correlation coefficients, and the influence of potential sharing of known risk factors was evaluated with alternating logistic regression. Relative contributions of genetic and environmental effects to the variation in liability for postpartum haemorrhage were quantified with generalised linear mixed models. Results The overall prevalence of postpartum haemorrhage after vaginal deliveries in our sample was 4.6%. Among vaginal deliveries, 18% (95% confidence interval 9% to 26%) of the variation in postpartum haemorrhage liability was attributed to maternal genetic factors, 10% (1% to 19%) to unique maternal environment, and 11% (0% to 26%) to fetal genetic effects. Adjustment for known risk factors only partially explained estimates of familial clustering, suggesting that the observed shared genetic and environmental effects operate in part through pathways independent of known risk factors. There were similar patterns of familial clustering for both of the main subtypes examined (atony and retained placenta), though strongest for haemorrhage after retained placenta. Conclusions There is a maternal genetic predisposition to postpartum haemorrhage, but more than half of the total

  12. Slow-moving vehicles in Swedish traffic.

    PubMed

    Pinzke, S; Lundqvist, P

    2004-05-01

    The objective of this study was to reach a better understanding of accidents on Swedish roads involving slow-moving vehicles and to suggest ways of preventing such accidents. We analyzed accident data from a 5-year period (1992-1996) involving all types of farm vehicles as well as horses and horse-drawn vehicles. During each year of the period under investigation, slow-moving vehicles were involved in more than 250 traffic accidents on Swedish roads, and an average of 10 people were killed, 66 sustained serious injuries, and 192 sustained slight injuries. This was about 1.3% of all persons injured in traffic accidents in Sweden. The deaths and injuries mostly involved car drivers and passengers. Tractor drivers and unprotected road users (people walking or traveling by motorcycle, moped, or bicycle) also sustained serious injuries and deaths. Vehicles overtaking slow-moving vehicles from behind were the most common type of accident (30%), followed by turning accidents (27%), accidents at crossroads (26%), and with oncoming vehicles (17%). To strengthen the suggestions for improvement, a questionnaire was sent out to driving school teachers in Sweden. Subjects were asked about their experiences with farm vehicles on the roads and their suggestions for ways to increase traffic safety. Based on the accident data and the questionnaire responses, we developed several suggestions for reducing road accidents, including measures for making farm vehicles more visible, improvement of the training provided at driving schools, and information campaigns directed at drivers of farm vehicles and other road users. Further in-depth research is needed to analyze road accidents involving slow-moving vehicles and to test different intervention measures. PMID:15216651

  13. A Swedish national adoption study of criminality

    PubMed Central

    Kendler, K. S.; Lönn, S. Larsson; Morris, N. A.; Sundquist, J.; Långström, N.; Sundquist, K.

    2014-01-01

    Background To clarify the role of genetic and environmental factors in criminal behavior (CB), we examined all CB and violent and non-violent subtypes (VCB and NVCB, respectively) in a Swedish national sample of adoptees and their relatives. Method CB was defined by a conviction in the Swedish Crime Register with standard definitions for VCB and NVCB subtypes. We examined adoptees born 1950–1991 (n=18070) and their biological (n=79206) and adoptive (n=47311) relatives. Results The risk for all CB was significantly elevated in the adopted-away offspring of biological parents of which at least one had CB [odds ratio (OR) 1.5, 95% confidence interval (CI) 1.4–1.6] and in the biological full and half-siblings of CB adoptees (OR 1.4, 95% CI 1.2–1.6 and OR 1.3, 95% CI 1.2–1.3, respectively). A genetic risk index (including biological parental/sibling history of CB and alcohol abuse) and an environmental risk index (including adoptive parental and sibling CB and a history of adoptive parental divorce, death, and medical illness) both strongly predicted probability of CB. These genetic and environmental risk indices acted additively on adoptee risk for CB. Moderate specificity was seen in the transmission of genetic risk for VCB and NVCB between biological parents and siblings and adoptees. Conclusions CB is etiologically complex and influenced by a range of genetic risk factors including a specific liability to CB and a vulnerability to broader externalizing behaviors, and by features of the adoptive environment including parental CB, divorce and death. Genetic risk factors for VCB and NVCB may be at least partially distinct. PMID:24180693

  14. Photoproduction of dissolved inorganic carbon in Swedish lakes

    NASA Astrophysics Data System (ADS)

    Koehler, B.; Landelius, T.; Tranvik, L. J.

    2012-04-01

    A substantial fraction of the dissolved organic carbon (DOC) in inland waters is mineralized to dissolved inorganic carbon (DIC) during passage towards the sea. Both microbial and photochemical mineralization have a share but there is currently no landscape-scale estimate of the contribution of photomineralization to total lake carbon dioxide emissions, restricting our understanding of inland-water C cycling. We use 1) DOC absorbance spectra measured during autumn 2009 in water samples from 1074 lakes distributed across Sweden, 2) light attenuation coefficients estimated based on correlations with absorption coefficients as established from literature data, 3) cloud-corrected, below-water-surface downwelling scalar irradiance spectra derived by modeling radiative transfer in the atmosphere and transmission into the water and 4) an apparent quantum yield spectrum determined in a humic lake, to calculate spectra of DIC photoproduction from 280 to 600 nm and from the water surface down to the mean lake depths. For each lake, we calculate DIC photoproduction rates on a daily base and integrate to obtain yearly flux estimates. Preliminary model results calculated for July 2009 show that, even though water color differed largely (25%- and 75%-quantiles of specific UV absorption coefficients at 254 nm (SUV A254) of 6.4 and 9.6 L mg C-1 m-1, respectively), depth-integrated DIC photoproduction rates showed a relatively small variation with a 25%-quantile of 12.0 and a 75%-quantile of 13.1 mg C m-2 day-1. These rather similar DIC photoproduction rates are explained by their different depth distributions: The brownest lake with a SUV A254 of 12.9 L mg C-1 m-1 had large surface DIC photoproduction rates of 887.9 mg C m-3 day-1 but photons were quickly attenuated with depth, with DIC photoproduction rates falling below 1 mg C m-3 day-1 already at ¯ 0.2 m depth (depth-integrated rate of 14.2 mg C m-2 day-1). The clearest lake with a SUV A254 of 1.4 L mg C-1 m-1 had nearly 100

  15. The Community of Family Circles (CFC) algorithm: a new inversion approach to obtaining self-consitent 4D thermal histories from large, spatially distributed thermochronological data sets

    NASA Astrophysics Data System (ADS)

    Beucher, R.; Brown, R. W.

    2013-12-01

    One of the most significant advances in interpreting thermochronological data is arguably our ability to extract information about the rate and trajectory of cooling over a range of temperatures, rather than having to rely on the veracity of the simplification of assuming a single closure temperature specified by a rate of monotonic cooling. Modern thermochronometry data, such as apatite fission track and (U-Th)/He analysis, are particularly good examples of data amenable to this treatment as acceptably well calibrated kinetic models now exist for both systems. With ever larger data sets of this type being generated over ever larger areas the prospect of inverting very large amounts of such data distributed spatially over large areas offers new possibilities for constraining the thermal and erosional histories over length scales approximating whole orogens and sub-continents. The challenge though is in how to properly deal with joint inversion of multiple samples in a self-consistent manner while also utilising all the available information contained in the data. We describe a new approach to this problem, called the Community of Family Circles (CFC) algorithm, which extracts information from spatially distributed apatite fission track ages (AFT) and track length distributions (TLD). The method is based on the rationale that the 3D geothermal field of the crust varies smoothly through space and time because of the efficiency of thermal diffusion. Our approach consists of seeking groups of spatially adjacent samples, or families, within a given circular radius for which a common thermal history is appropriate. The temperature offsets between individual time-temperature paths are determined relative to a low-pass filtered topographic surface, whose shape is assumed to mimic the shape of the isotherms in the partial annealing zone. This enables a single common thermal history to be shared, or interpolated, between the family members while still honouring the

  16. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 EPH families using 15 polymorphic loci in the region 5q11. 2-q13. 3

    SciTech Connect

    Wirth, B.; Pick, E.; Leutner, A.; Dadze, A.; Voosen, B.; Piechaczek-Wappenschmidt, B.; Rudnik-Schoeneborn, S.; Schoenling, J.; Zerres, K. ); Knapp, M. )

    1994-03-01

    The autosomal recessive proximal spinal muscular atrophy (SMA) gene was mapped to the region 5q11.2-q.13.3 in 1990. Here, the authors present a large genetic linkage study of 100 SMA families and 11 CEPH families using 14 polymorphic simple sequence repeats (SSRs) and one RFLP in the region 5q11.2-q.13.3. The genetic interval between the closest SMA flanking loci D5S435 and D5S557 comprises 1 cM at z[sub max] = 27.94. Two recombinants were identified between the SMA gene and the closest telomeric marker D5S557. The first places the SMA gene centromeric to this marker; the second suggests a double recombinant at D5S557, which is very unlikely. More likely explanations are discussed in the paper. No recombinant was found between D5S435 and the SMA gene. They localized a recently described polymorphic marker, D5S351, close to the SMA. Due to its high PIC value of 0.70, it represents a very useful marker for prenatal diagnosis. In addition, they developed a new reverse primer for the nearest centromeric locus D5S435, a useful marker for prenatal diagnosis, which has been very difficult to amplify in the past. Three of the markers presented here are newly developed polymorphic SSRs (one tetranucleotide repeat, D5s507/W15CATT, and two dinucleotide repeats, D5S544/C88.2GT and D5S682/C88.3GT). These markers are too far from the SMA gene to be relevant for cloning; nevertheless, as part of the human genome project, they are contributing to the fine genetic mapping of the region 5q11.2-q.13.3. The most likely order of the loci based on two-point and multipoint linkage analyses as well as on specific recombination events and physical mapping studies is D5S76-D5S507-D5S6-D5S125-D5S680-D5S435-SMA-D5S557-D5S35 -15[prime]MAP1B-3[prime]MAP1B-JK53CA1/2-(D5S127-D5S39)-(D5S544-D5S682). In general, the genetic distances obtained from the SMA and CEPH families are comparable. 25 refs., 4 figs., 5 tabs.

  17. Swedish Research and Debate About Bilingualism. A Critical Review of the Swedish Research and Debate about Bilingualism and Bilingual Education in Sweden from an International Perspective.

    ERIC Educational Resources Information Center

    Paulston, Christina Bratt

    Swedish research and opinion on bilingualism, language policy, and bilingual education in Sweden is reviewed. The Swedish debate on language planning and bilingual education revolves around two perspectives: structural-functional theory and conflict theory. Swedish research consists primarily of statistical and descriptive studies rather than…

  18. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.

    PubMed

    Turkkahraman, Doga; Guran, Tulay; Ivison, Hannah; Griffin, Aliesha; Vijzelaar, Raymon; Krone, Nils

    2015-01-01

    Steroid 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the 17α-hydroxylase ( CYP17A1) gene. CYP17A1 is a key enzyme in the biosynthesis of adrenal and gonadal steroid hormones facilitating both 17α-hydroxylase and 17,20-lyase activities. We characterized a partial CYP17A1 deletion in a Kurdish family with 17OHD by multiplex ligation-dependent probe amplification (MLPA). The index patient presented with amenorrhea and lack of pubertal development. Investigations established the diagnosis of 46,XY disorder of sex development (DSD). She is the daughter of consanguineous parents and has 2 sisters with similar clinical presentation. All patients showed biochemical signs of primary adrenal and gonadal insufficiency. The molecular genetic analysis by PCR suggested a deletion spanning exons 1–6 of the CYP17A1 gene. MLPA analysis confirmed the large partial CYP17A1 deletion in patients and parents in homozygous and heterozygous state, respectively. This is the first report employing MLPA for mutation analysis to detect a deletion of CYP17A1 spanning multiple exons in 3 patients with classic 17OHD. Therefore, it is important to consider large partial CYP17A1 deletions in 17OHD in addition to point mutations in cases where no segregation analysis is possible to determine the correct genotype. PMID:25765894

  19. How School Nurses Experience Their Work with Schoolchildren Who Have Mental Illness – A Qualitative Study in a Swedish Context

    PubMed Central

    Dina, Fikrije; Pajalic, Zada

    2014-01-01

    Background: Reports from research have shown that mental illness has increased dramatically in recent years and is currently one of the biggest problems among Swedish children and adolescents. Aim: The aim of this study was to describe how Swedish school nurses experience their work with schoolchildren who have mental illness Method: Data were gained by individual interviews with school nurses (n = 10) and were analyzed by using manifest qualitative content analysis. Results: The results of the study showed that school nurses used various tools when working with schoolchildren who have mental illness. The working tools were regular health talks, motivational interviewing, individual counseling, family counseling, creating trust, and affirming the child’s confidence. Conclusion: Results of the study demonstrate the need for further research on schoolchildren’s experience of getting help and support from the school nurse. PMID:24999138

  20. Caries assessment and restorative treatment thresholds reported by Swedish dentists.

    PubMed

    Mejàre, I; Sundberg, H; Espelid, I; Tveit, B

    1999-06-01

    The aim was to study any variability in approximal and occlusal caries diagnoses and restorative treatment decisions among Swedish dentists. The material consisted of a pre-coded questionnaire sent to a random sample of 923 dentists with 4 items concerning approximal and occlusal caries diagnosis and restorative treatment decisions. Responses were received from 651 (70.5%) dentists. In an adolescent with low caries activity and good oral hygiene, more than 90% of the dentists stated that they would not automatically restore a primary approximal caries lesion if its radiographic appearance did not show obvious progression in the outer 1/3 to 1/2 of the dentin. Moreover, 67% of the dentists would only consider immediate restorative treatment of an occlusal surface if obvious cavitation and/or radiographic signs of dentin caries could be observed. When diagnosing questionable occlusal caries, the dentists largely relied on the radiographic appearance. Concerning both approximal and occlusal caries, the threshold for restorative treatment differed between the metropolitan regions in Sweden, and younger more often than older dentists would postpone restorative treatment of approximal caries until the lesion had reached a relatively advanced stage of progression. The responses also showed that dentists in private practice would restore approximal caries at an earlier stage of progression than the dentists in the Public Dental Health Service. PMID:10480281

  1. A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family

    PubMed Central

    ZHOU, Peng; WEI, Ran; GUO, Zhenkui; ZHU, Haining; CAMPBELL, Desmond; LI, Qi; XU, Xiaoqun; WANG, Junfu; LUAN, Meng; CHEN, Xing; CHEN, Gang

    2016-01-01

    Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. Eleven genes were related, including HNF4α, GCK, HNF1α, IPF1, and HNF-1β, and various mutations are being reported. Methods: To help the overall understanding of MODY-related pathologic mutations, we studied a large MODY family found in 2012, in Shandong, China, which contained 9 patients over 3 generations. DNA was extracted from the periphery blood samples of (i) 9 affected members, (ii) 17 unaffected members, and (iii) 1000 healthy controls. Three pooled samples were obtained by mixing equal quantity of DNA of each individual within the each group. Totally 400 microsatellite markers across the whole genome were genotyped by capillary electrophoresis. The known MODY-related gene near the identified marker was sequenced to look for putative risk variants. Results: Allelic frequency of marker D17S798 on chromosome 17q11.2 were significantly different (P<0.001) between the affected vs. unaffected members and the affected vs. healthy controls, but not between the unaffected members vs. healthy controls. MODY5-related gene, hepatocyte nuclear factor-1β (HNF-1β) on 17q12 near D17S798 became the candidate gene. A single nucleotide variant (SNV) of C77T in the non-coding area of exon 1 of HNF-1β was found to be related to MODY5. Conclusion: This novel SNV of HNF-1β contributes to the diabetes development in the family through regulating gene expression most likely. The findings help presymptomatic diagnosis, and imply that mutations in the non-coding areas, as well as in the exons, play roles in the etiology of MODY. PMID:27114981

  2. Family Preservation & Family Functioning.

    ERIC Educational Resources Information Center

    McCroskey, Jacquelyn; Meezan, William

    This book reports a study of the outcomes of home-based family preservation services for abusive and neglectful families in Los Angeles County. Using the Family Assessment Form, the research project evaluated services provided by two voluntary agencies, and focused on changes in family functioning between the opening and closing of services during…

  3. Mortality in Adult Offspring of Immigrants: A Swedish National Cohort Study

    PubMed Central

    Manhica, Hélio; Toivanen, Susanna; Hjern, Anders; Rostila, Mikael

    2015-01-01

    Background Higher risks of psychiatric disorders and lower-than-average subjective health in adulthood have been demonstrated in offspring of immigrants in Sweden compared with offspring of native Swedes, and linked to relative socioeconomic disadvantage. The present study investigated mortality rates in relation to this inequity from a gender perspective. Methods We used data from national registers covering the entire Swedish population aged 18-65 years. Offspring of foreign-born parents who were either Swedish born or had received residency in Sweden before school age (<7 years) were defined as “offspring of immigrants.” We used Cox regression models to examine the association between parental country of birth and mortality between 1990 and 2008, with adjustment for education, income, age and family type. Results Male offspring of immigrants from the Middle East (HR:2.00, CI:1.66-2.26), other non-European countries (HR:1.80, CI:1.36-2.36) and Finland (HR:1.56, CI:1.48-1.65) showed an age-adjusted excess mortality risk from all causes of death when compared to offspring with Swedish-born parents. Income, but not education, greatly attenuated these increased mortality risks. No excess mortality rates were found among female offspring of immigrants, with the exception of external cause of death among offspring of Finnish immigrants. Conclusion The study demonstrates high mortality rates in male offspring of immigrants from Finland and non-European countries that are associated with economic, but not educational, disadvantage. No increased mortality rates were found among female offspring of immigrants. Future studies are needed to explain this gender differential and why income, but not education, predicts mortality in male offspring of immigrants. PMID:25706297

  4. Personality disorders in a Swedish peacekeeping unit.

    PubMed

    Michel, Per-Olof; Lundin, Tom; Larsson, Gerry

    2005-01-01

    There is a lack of knowledge about the incidence of personality disorders and their consequences among peacekeepers. Moreover, most studies are follow-up studies in which, if at all, personality traits are screened for after the soldiers have left their service abroad. The aim of this paper was to study personality disorders in a longitudinal perspective. The method used was to screen the personnel in a Swedish mechanized battalion serving in Bosnia from March until October 1996 on four occasions: before deployment, immediately after deployment, 6 months after deployment and 1 year after deployment. Serving in the battalion were 724 individuals of whom 516 took part in the survey. The screening instrument used was the DSM-IV and ICD-10 Personality Questionnaire (DIP-Q). The result shows that the rate of personality disorders were on the same level, or a little bit lower, than in the general population. Moreover, personality disorders were related to impaired general mental health and to reported traumatic experiences. Personality disorders also seemed to contribute to poor mental health 1 year after returning home from a mission abroad. The implications of these results for the future selection of peacekeepers are discussed. PMID:16195111

  5. FAMILY CECIDOMYIIDAE.

    PubMed

    Maia, Valéria Cid

    2016-01-01

    This large family is poorly known in Colombia, where only 44 species have been recorded in 20 genera. All of them are included in Cecidomyiinae, which is the most diverse subfamily of gall midges in number of species and feeding habits, including phytophagous, predaceous and fungivorous species. Most of them are galler. The other subfamilies have never been recorded in this country. PMID:27395254

  6. Genetic analysis of polyomavirus large T nuclear localization: nuclear localization is required for productive association with pRb family members.

    PubMed Central

    Howes, S H; Bockus, B J; Schaffhausen, B S

    1996-01-01

    Polyomavirus large T antigen (LT) is a multifunctional nuclear protein. LT has two nuclear localization signals (NLS2), one spanning residues 189 to 195 (NLS1) and another spanning residues 280 to 286 (NLS2). Site-directed mutagenesis showed that each signal contains at least two critical residues. The possibility of connections between NLSs and adjacent phosphorylations has attracted much attention. Cytoplasmic LT (CyT) mutants were underphosphorylated, particularly at sites adjacent to NLS2. However, since a nuclear LT bearing an inactivated NLS2 was phosphorylated normally at adjacent sites, the signal was not directly required for phosphorylation. Conversely, LT could be translocated to the nucleus via NLS2 even when the adjacent phosphorylation sites were deleted. CyT was examined to probe the importance of LT localization. CyT was unable to perform LT functions related to interactions with retinoblastoma susceptibility gene (pRb) family members. Hence, CyT was unable to immortalize primary cells or to transactivate an E2F-responsive promoter. Consistent with these findings, CyT, though capable of binding pRb in vitro, did not cause relocalization of pRb in cells. Assays of transactivation of the simian virus 40 late promoter and of the human c-fos promoter showed that defects of CyT were not limited to functions dependent on pRb interactions. PMID:8648692

  7. Large, larger, largest--a family of cluster-based tantalum copper aluminides with giant unit cells. II. The cluster structure.

    PubMed

    Conrad, Matthias; Harbrecht, Bernd; Weber, Thomas; Jung, Daniel Y; Steurer, Walter

    2009-06-01

    This is the second of two papers, where we discuss the cluster structures of a novel family of cluster-based intermetallic phases of unprecedented complexity: cF444-Al(63.6)Ta(36.4) (AT-19), a = 19.1663 (1) A, V = 7040 A3, cF(5928-x)-Al(56.6)Cu(3.9)Ta(39.5), x = 20 (ACT-45), a = 45.376 (1) A, V = 93,428 A3 and cF(23,256-x)-Al(55.4)Cu(5.4)Ta(39.1), x = 122 (ACT-71), a = 71.490 (4) A, V = 365,372 A3. The space group is F43m in all three cases. The structures can be described as packings of clusters such as fullerenes, dodecahedra, pentagonal bifrusta and Friauf polyhedra. A characteristic feature of the two larger structures are nets of hexagonal bipyramidal Ta clusters (h.b.p.). The extremely short distance of 2.536-2.562 A between their apical Ta atoms indicates unusually strong bonding. The large h.b.p. nets are sandwiched between slabs of Friauf polyhedra resembling the structure of the mu phase. PMID:19461141

  8. A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

    PubMed Central

    Guéguen, Paul; Rouault, Karen; Chen, Jian-Min; Raguénès, Odile; Fichou, Yann; Hardy, Elisabeth; Gobin, Eric; Pan-petesch, Brigitte; Kerbiriou, Mathieu; Trouvé, Pascal; Marcorelles, Pascale; Abgrall, Jean-francois; Le Maréchal, Cédric; Férec, Claude

    2013-01-01

    Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited thrombocytopenia still remain unexplained in terms of the underlying pathogenic mechanisms. Here we report a six-generation French pedigree with an autosomal dominant mode of inheritance and the identification of its genetic basis. Of the 55 subjects available for analysis, 26 were diagnosed with isolated macrothrombocytopenia. Genome-wide linkage analysis mapped a 10.9 Mb locus to chromosome 14 (14q22) with a LOD score of 7.6. Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree. The missense mutation occurred within actin-binding domain of alpha-actinin 1, a functionally critical domain that crosslinks actin filaments into bundles. The evaluation of cultured mutation-harboring megakaryocytes by electron microscopy and the immunofluorescence examination of transfected COS-7 cells suggested that the mutation causes disorganization of the cellular cytoplasm. Our study concurred with a recently published whole-exome sequence analysis of six small Japanese families with congenital macrothrombocytopenia, adding ACTN1 to the growing list of thrombocytopenia genes. PMID:24069336

  9. Changes in health care utilisation following a reform involving choice and privatisation in Swedish primary care: a five-year follow-up of GP-visits

    PubMed Central

    2013-01-01

    Background The organisation of Swedish primary health care has changed following introduction of free choice of provider for the population in combination with freedom of establishment for private primary care providers. Our aim was to investigate changes in individual health care utilisation following choice and privatisation in Swedish primary care from an equity perspective, in subgroups defined by age, gender and family income. Methods The study is based on register data years 2007 – 2011 from the Skåne Regional Council (population 1.2 million) regarding individual health care utilisation in the form of visits to general practitioner (GP). Health utilisation data was matched with data about individual’s age, gender and family income provided by Statistics Sweden. Multilevel, logistic regression models were constructed to analyse changes in health utilisation in different subgroups and the probability of a GP-visit before and after reform. Results Health care utilisation in terms of both number of individuals that had visited a GP and number of GP-visits per capita increased in all defined subgroups, but to a varying degree. Multilevel logistic regression showed that individuals of both genders aged above 64 and belonging to a family with an income above median had more advantage of the reform, OR 1.25-1.29. Conclusions Reforms involving choice and privatisation in Swedish primary health care improved access to GP-visits generally, but more so for individuals belonging to a family with income above the median. PMID:24171894

  10. Unexpected adverse childhood experiences and subsequent drug use disorder: a Swedish population study (1995–2011)

    PubMed Central

    Giordano, Giuseppe N.; Ohlsson, Henrik; Kendler, Kenneth S.; Sundquist, Kristina; Sundquist, Jan

    2014-01-01

    Aims Exposure to extraordinary traumatic experience is one acknowledged risk factor for drug use. We aim to analyse the influence of potentially life-changing childhood stressors, experienced second-hand, on later drug use disorder in a national population of Swedish adolescent and young adults (aged 15–26 years). Design We performed Cox Proportional Hazard regression analyses, complemented with co-relative pair comparisons. Setting Sweden Participants All individuals in the Swedish population born 1984 to 1995, who were registered in Sweden at the end of the calendar year they turned 14 years of age. Our follow-up time (Mean: 6.2 years; Range 11 years) started at the year they turned 15 and continued to December 2011 (N=1,409,218). Measurements Our outcome variable was drug use disorder, identified from medical, legal and pharmacy registry records. Childhood stressors, as per DSM-IV stressor criteria, include death of an immediate family member and second-hand experience of diagnoses of malignant cancer, serious accidental injury, and victim of assault. Other covariates include parental divorce, familial psychological well-being, and familial drug and alcohol use disorders. Findings After adjustment for all considered confounders, individuals exposed to childhood stressors ‘parental death’ or ‘parental assault’ had over twice the risk of drug use disorder than those who were not (HR = 2.63 (2.23–3.09) and 2.39 (2.06–2.79), respectively). Conclusions Children under 15 who experience second-hand an extraordinary traumatic event (such as a parent or sibling being assaulted, diagnosed with cancer, or dying) appear to have approximately twice the risk of developing a drug use disorder than those who do not. PMID:24612271

  11. [Natural family planning].

    PubMed

    Odeblad, E

    1992-06-01

    Natural family planning (NFP) is based on the knowledge *largely nonexistent) of a women as to whether she is in her fertile period or not. In contrast to the calendar method, the Billings method consists of observing bodily functions, whereby women learn about the fertile and infertile period during the menstrual cycle. This method is very safe as long as the woman has been instructed thoroughly. The Pearl index (the number of pregnancies/100 woman years) can be 1. In a Swedish province, 7/1000 population used this method and had an abortion rate of .5/1000, a fact contradicting the allegation of mass abortion as a result of the method. Only well-trained NFP instructors can teach women, and at the University of Umea such training has been available for some years. The biological basis of the Billings method rests on the fact that every release of an egg is preceded by a ripening process of a follicle in the ovary. This follicle secretes increasing amounts of estrogen which stimulates the cervix to produce secretions for the sperm. Right before ovulation, the follicle reduces estrogen production and noradrenaline takes over, stimulating the peak-day secretion (P-secretion) for further selection of sperm. Ovulation usually occurs on the peak day, which is the day of maximum fertility and the last day of mucous symptoms. For 3 days after peak day until menstruation, the risk of becoming pregnant diminishes successively until it is as low as after sterilization. The instructor is trained to recognize and overcome certain factors that make it more difficult to identify the mucous symptoms, such as the previous use of oral contraceptives, certain illnesses, drugs, and life styles. NFP can also be used for attaining pregnancy by identifying the peak day; women with premenstrual syndrome can calculate when their symptoms start, and sportswomen can predict the time of their menstruation. NFP is fascinating when it is compared to other methods because of its human dimension

  12. Human KZNF Gene Catalog - A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors

    DOE Data Explorer

    Huntley, S; Baggott, D. M.; Hamilton, A. T.; Tran-Gyamfi, M.; Yang, S.; Kim, J.; Gordon, L.; Branscomb, E.; Stubbs, L.

    Kruppel-type zinc finger (ZNF) motifs are prevalent components of transcription factor proteins in all eukaryotes. KRAB-ZNF proteins, in which a potent repressor domain is attached to a tandem array of DNA-binding zinc-finger motifs, are specific to tetrapod vertebrates and represent the largest class of ZNF proteins in mammals. To define the full repertoire of human KRAB-ZNF proteins, we searched the genome sequence for key motifs and then constructed and manually curated gene models incorporating those sequences. The resulting gene catalog contains 423 KRAB-ZNF protein-coding loci, yielding alternative transcripts that altogether predict at least 742 structurally distinct proteins. Active rounds of segmental duplication, involving single genes or larger regions and including both tandem and distributed duplication events, have driven the expansion of this mammalian gene family. Comparisons between the human genes and ZNF loci mined from the draft mouse, dog, and chimpanzee genomes not only identified 103 KRAB-ZNF genes that are conserved in mammals but also highlighted a substantial level of lineage-specific change; at least 136 KRAB-ZNF coding genes are primate specific, including many recent duplicates. KRAB-ZNF genes are widely expressed and clustered genes are typically not coregulated, indicating that paralogs have evolved to fill roles in many different biological processes. To facilitate further study, we have developed a Web-based public resource with access to gene models, sequences, and other data, including visualization tools to provide genomic context and interaction with other public data sets. [This abstract was copied from: S Huntley, DM Baggott, AT Hamilton, M Tran-Gyamfi, S Yang, J Kim, L Gordon, E Branscomb, and L Stubbs. 2006. A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors, Genome Research 16(5):669 - 677] The website provides the

  13. Incidence of pyometra in Swedish insured cats.

    PubMed

    Hagman, Ragnvi; Ström Holst, Bodil; Möller, Lotta; Egenvall, Agneta

    2014-07-01

    Pyometra is a clinically relevant problem in intact female cats and dogs. The etiology is similar in both animal species, with the disease caused by bacterial infection of a progesterone-sensitized uterus. Here, we studied pyometra in cats with the aim to describe the incidence and probability of developing pyometra based on age and breed. The data used were reimbursed claims for veterinary care insurance or life insurance claims or both in cats insured in a Swedish insurance database from 1999 to 2006. The mean incidence rate (IR) for pyometra was about 17 cats per 10,000 cat years at risk (CYAR). Cats with pyometra were diagnosed at a median age of 4 years and a significant breed effect was observed. The breed with the highest IR (433 cats per 10,000 CYAR) was the Sphynx, and other breeds with IR over 60 cats per 10,000 CYAR were Siberian cat, Ocicat, Korat, Siamese, Ragdoll, Maine coon, and Bengal. Pyometra was more commonly diagnosed with increasing age, with a marked increase in cats older than 7 years. The mean case fatality rate in all cats was 5.7%, which is slightly higher than corresponding reports in dogs of 3% to 4%. Geographical location (urban or rural) did not affect the risk of developing the disease. The present study provides information of incidence and probability of developing pyometra based on age, breed, and urban or rural geographical location. These data may be useful for designing cat breeding programs in high-risk breeds and for future studies of the genetic background of the disease. PMID:24726694

  14. Creating egalitarian families among the adult children of Turkish- and Polish-origin immigrants in Sweden.

    PubMed

    Goldscheider, Fran; Goldscheider, Calvin; Bernhardt, Eva M

    2011-01-01

    This article analyzes the factors shaping egalitarian family relationships among those with two Swedish-born parents and those with at least one parent born in Poland or Turkey. We ask: (1) What factors affect sharing domestic tasks and do they also shape the division of child care responsibilities? (2) Do these effects differ, depending on the extent of exposure to Swedish life? We analyze data from a longitudinal survey conducted between 1999 and 2003. Holding egalitarian work–family attitudes affects actual sharing of housework, but much more for those growing up in more socially integrated than in less integrated families. PMID:21717599

  15. Family-Friendly Policies and Gender Bias in Academia

    ERIC Educational Resources Information Center

    Mayer, Audrey L.; Tikka, Paivi M.

    2008-01-01

    Several recent reports on the status of women in US academic institutions have recommended more generous family policies to encourage and retain more women among academic staffs. Many of the policies suggested are modelled on those that have been in effect in Nordic countries for decades. The status of women among Finnish and Swedish academic…

  16. Family Formation and Men's and Women's Attainment of Workplace Authority

    ERIC Educational Resources Information Center

    Bygren, Magnus; Gahler, Michael

    2012-01-01

    Using Swedish panel data, we assess whether the gender gap in supervisory authority has changed during the period 1968-2000, and investigate to what extent the gap can be attributed to gender-specific consequences of family formation. The results indicate that the gap has narrowed modestly during the period, and that the life-event of parenthood…

  17. Medical History, Lifestyle, Family History, and Occupational Risk Factors for Diffuse Large B-Cell Lymphoma: The InterLymph Non-Hodgkin Lymphoma Subtypes Project

    PubMed Central

    Kricker, Anne; Paltiel, Ora; Flowers, Christopher R.; Wang, Sophia S.; Monnereau, Alain; Blair, Aaron; Maso, Luigino Dal; Kane, Eleanor V.; Nieters, Alexandra; Foran, James M.; Miligi, Lucia; Clavel, Jacqueline; Bernstein, Leslie; Rothman, Nathaniel; Slager, Susan L.; Sampson, Joshua N.; Morton, Lindsay M.; Skibola, Christine F.

    2014-01-01

    Background Although risk factors for diffuse large B-cell lymphoma (DLBCL) have been suggested, their independent effects, modification by sex, and association with anatomical sites are largely unknown. Methods In a pooled analysis of 4667 cases and 22639 controls from 19 studies, we used stepwise logistic regression to identify the most parsimonious multivariate models for DLBCL overall, by sex, and for selected anatomical sites. Results DLBCL was associated with B-cell activating autoimmune diseases (odds ratio [OR] = 2.36, 95% confidence interval [CI] = 1.80 to 3.09), hepatitis C virus seropositivity (OR = 2.02, 95% CI = 1.47 to 2.76), family history of non-Hodgkin lymphoma (OR = 1.95, 95% CI = 1.54 to 2.47), higher young adult body mass index (OR = 1.58, 95% CI = 1.12 to 2.23, for 35+ vs 18.5 to 22.4 kg/m2), higher recreational sun exposure (OR = 0.78, 95% CI = 0.69 to 0.89), any atopic disorder (OR = 0.82, 95% CI = 0.76 to 0.89), and higher socioeconomic status (OR = 0.86, 95% CI = 0.79 to 0.94). Additional risk factors for women were occupation as field crop/vegetable farm worker (OR = 1.78, 95% CI = 1.22 to 2.60), hairdresser (OR = 1.65, 95% CI = 1.12 to 2.41), and seamstress/embroider (OR = 1.49, 95% CI = 1.13 to 1.97), low adult body mass index (OR = 0.46, 95% CI = 0.29 to 0.74, for <18.5 vs 18.5 to 22.4 kg/m2), hormone replacement therapy started age at least 50 years (OR = 0.68, 95% CI = 0.52 to 0.88), and oral contraceptive use before 1970 (OR = 0.78, 95% CI = 0.62 to 1.00); and for men were occupation as material handling equipment operator (OR = 1.58, 95% CI = 1.02 to 2.44), lifetime alcohol consumption (OR = 0.57, 95% CI = 0.44 to 0.75, for >400kg vs nondrinker), and previous blood transfusion (OR = 0.69, 95% CI = 0.57 to 0.83). Autoimmune disease, atopy, and family history of non-Hodgkin lymphoma showed similar associations across selected anatomical sites, whereas smoking was associated with central nervous system, testicular and cutaneous DLBCLs

  18. Swedish Art Song: A Singer's Handbook to Diction and Repertoire

    ERIC Educational Resources Information Center

    Hersey, Anna Christine

    2012-01-01

    This essay is a guide to Swedish lyric diction for American singers. An overview of the linguistic traits and basic grammar of the Swedish language prepares the reader for a detailed description of Swedish phonemes and their occurrence in the language. Differences in pronunciation conventions as they pertain to classical singing, particularly the…

  19. X: a case study of a Swedish neo-Nzi and his reintegration into Swedish society.

    PubMed

    Stern, Jessica Eve

    2014-01-01

    This article provides a case study of a Swedish neo-Nazi and the reintegration program being provided to him. During an extensive interview that took place over two days, he told a researcher that he was interested in having a violent adventure, and that he was drawn to Nazi symbols and history more than their creed. In comparison with ordinary crime, terrorist crime is quite rare, and access to detailed case studies is rarer still, making the development of a prospective risk-assessment instrument extremely difficult. Researchers' "thick descriptions" of their encounters with terrorists can help us to develop putative risk factors which can then be tested against controls. The article concludes by arguing that just as there is no single pathway into or out of terrorism, there can be no single reintegration program. A series of thick descriptions is a first step toward understanding what leads individuals into and out of terrorism. PMID:24711284

  20. Effectiveness of Implant Therapy Analyzed in a Swedish Population

    PubMed Central

    Derks, J.; Håkansson, J.; Wennström, J.L.; Tomasi, C.; Larsson, M.; Berglundh, T.

    2015-01-01

    Treatment outcomes in implant dentistry have been mainly assessed as implant survival rates in small, selected patient groups of specialist or university clinical settings. This study reports on loss of dental implants assessed in a large and randomly selected patient sample. The results were aimed at representing evaluation of effectiveness of implant dentistry. Using the national data register of the Swedish Social Insurance Agency, 4,716 patients were randomly selected. All had been provided with implant-supported restorative therapy in 2003. Patient files of 2,765 patients (11,311 implants) were collected from more than 800 clinicians. Information on patients, treatment procedures, and outcomes related to the implant-supported restorative therapy was extracted from the files. In total, 596 of the 2,765 subjects, provided with 2,367 implants, attended a clinical examination 9 y after therapy. Implant loss that occurred prior to connection of the supraconstruction was scored as an early implant loss, while later occurring loss was considered late implant loss. Early implant loss occurred in 4.4% of patients (1.4% of implants), while 4.2% of the patients who were examined 9 y after therapy presented with late implant loss (2.0% of implants). Overall, 7.6% of the patients had lost at least 1 implant. Multilevel analysis revealed higher odds ratios for early implant loss among smokers and patients with an initial diagnosis of periodontitis. Implants shorter than 10 mm and representing certain brands also showed higher odds ratios for early implant loss. Implant brand also influenced late implant loss. Implant loss is not an uncommon event, and patient and implant characteristics influence outcomes (ClinicalTrials.gov NCT01825772). PMID:25503901

  1. A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.

    PubMed

    Sun, Yi; Zhang, Zhao; Cheng, Jing; Lu, Yu; Yang, Chang-Liang; Luo, Yan-Yun; Yang, Guang; Yang, Hui; Zhu, Li; Zhou, Jia; Yao, Hang-Qi

    2015-06-01

    The middle-frequency sensorineural hearing loss (MFSNHL) is rare among hereditary non-syndromic hearing loss. To date, only three genes are reported to be associated with MFSNHL, including TECTA, EYA4 and COL11A2. In this report, we analyzed and explored the clinical audiological characteristics and the causative gene of a Chinese family named HG-Z087 with non-syndromic autosomal dominant inherited MFSNHL. Clinical audiological characteristics and inheritance pattern of a family were evaluated, and pedigree was drawn based on medical history investigation. Our results showed that the Chinese family was characterized by late onset, progressive, non-sydromic autosomal dominant MFSNHL. Targeted exome sequencing, conducted using DNA samples of an affected member in this family, revealed a novel heterozygous missense mutation c.1643C>G in exon 18 of EYA4, causing amino-acid (aa) substitution Arg for Thr at a conserved position aa-548. The p.T548R mutation related to hearing loss in the selected Chinese family was validated by Sanger sequencing. However, the mutation was absent in control group containing 100 DNA samples from normal Chinese families. In conclusion, we identified the pathogenic gene and found that the novel missense mutation c.1643C>G (p.T548R) in EYA4 might have caused autosomal dominant non-syndromic hearing impairment in the selected Chinese family. PMID:25809937

  2. Family welfare.

    PubMed

    Sinha, N K

    1992-01-01

    Between 1901-1921, India gained 12.9 million people because mortality remained high. The death rate fell between 1921-1951, but birth rates remained the same. Therefore 110 million people were added--2 times the population increase between 1891-1921. Between 1951-1981, the population increased to 324 million. Socioeconomic development was responsible for most of the downward trend in the birth rate during the 20th century. Even though large families were the norm in early India, religious leaders encouraged small family size. The 1st government family planning clinics in the world opened in Mysore and Bangalore in 1930. Right before Independence, the Bhore Committee made recommendations to reduce population growth such as increasing the age of marriage for girls. Since 1951 there has been a change in measures and policies geared towards population growth with each of the 7 5-Year Plans because policy makers applied what they learned from each previous plan. The 1st 5-Year Plan emphasized the need to understand what factors contribute to population growth. It also integrated family planning services into health services of hospitals and health centers. The government was over zealous in its implementation of the sterilization program (2nd 5-Year Plan, 1956-1961), however, which hurt family planning programs for many years. As of early 1992, sterilization, especially tubectomy, remained the most popular family planning method, however. The 7th 5-Year Plan changed its target of reaching a Net Reproductive Rate of 1 by 2001 to 2006-2011. It set a goal of 100% immunization coverage by 1990 but it did not occur. In 1986, the Ministry of Health and Family Welfare planned to make free contraceptives available in urban and rural areas and to involve voluntary organizations. The government needs to instill measures to increase women's status, women's literacy, and age of marriage as well as to eliminate poverty, ensure old age security, and ensure child survival and

  3. Integrating Training in Family-Centered Practices in Context: Implications for Implementing Change Activities.

    ERIC Educational Resources Information Center

    Granlund, Mats; Bjorck-Akesson, Eva

    2000-01-01

    This article discusses in-service training of Swedish professionals in family-centered intervention for families with children with disabilities. The training, which has been implemented on an interdisciplinary team basis in the context of ordinary habilitation services, is described as one of several options for fostering improvement within an…

  4. Family-Friendly Labour Market Policies and Careers in Sweden--and the Lack of Them

    ERIC Educational Resources Information Center

    Thornqvist, Christer

    2006-01-01

    This article discusses the origin and development of family-friendly policies and careers in Sweden. The starting-point for the discussion is that what "family-friendly" is can never be separated from the gendered labour market. Drawing on Lotte Bailyn's analysis of gender "equity", the article argues that the Swedish labour market has no doubt…

  5. Maternal Height and Preterm Birth: A Study on 192,432 Swedish Women

    PubMed Central

    Derraik, José G. B.; Lundgren, Maria; Cutfield, Wayne S.; Ahlsson, Fredrik

    2016-01-01

    Background There is increasing evidence that lower maternal stature is associated with shorter gestational length in the offspring. We examined the association between maternal height and the likelihood of delivering preterm babies in a large and homogeneous cohort of Swedish women. Methods This study covers antenatal data from the Swedish Medical Birth Register on 192,432 women (aged 26.0 years on average) born at term, from singleton pregnancies, and of Nordic ethnicity. Continuous associations between women's heights and the likelihood of preterm birth in the offspring were evaluated. Stratified analyses were also carried out, separating women into different height categories. Results Every cm decrease in maternal stature was associated with 0.2 days shortening of gestational age in the offspring (p<0.0001) and increasing odds of having a child born preterm (OR 1.03), very preterm (OR 1.03), or extremely preterm (OR 1.04). Besides, odds of all categories of preterm birth were highest among the shortest women but lowest among the tallest mothers. Specifically, women of short stature (≤155 cm or ≤-2.0 SDS below the population mean) had greater odds of having preterm (OR 1.65) or very preterm (OR 1.47) infants than women of average stature (-0.5 to 0.5 SDS). When compared to women of tall stature (≥179 cm), mothers of short stature had even greater odds of giving birth to preterm (OR 2.07) or very preterm (OR 2.16) infants. Conclusions Among Swedish women, decreasing height was associated with a progressive increase in the odds of having an infant born preterm. Maternal short stature is a likely contributing factor to idiopathic preterm births worldwide, possibly due to maternal anatomical constraints. PMID:27100080

  6. A Perspective on Diversity, Equality and Equity in Swedish Schools

    ERIC Educational Resources Information Center

    Johansson, Olof; Davis, Anna; Geijer, Luule

    2007-01-01

    This study presents policy and theory as they apply to diversity, equality and equity in Swedish social and educational policy. All education in Sweden should, according to the curriculum (Lpo 94, 1994, p. 5) be of equivalent value, irrespective of where in the country it is provided and education should be adapted to each pupil's circumstances…

  7. Parental Governmentality: Involving "Immigrant Parents" in Swedish Schools

    ERIC Educational Resources Information Center

    Dahlstedt, Magnus

    2009-01-01

    In Sweden, calls for partnership between state institutions and local communities punctuate discussions of a number of areas of public policy. In this article, the discourse of partnership is analyzed in recent developments in Swedish educational policy, and particularly the involvement of "immigrant parents" as partners collaborating with the…

  8. Swedish Lower Secondary School Teachers' Perceptions and Experiences Regarding Homework

    ERIC Educational Resources Information Center

    Gu, Limin; Kristoffersson, Margaretha

    2015-01-01

    This study investigates homework in Swedish lower secondary schools: teachers' perceptions and experiences about it and their understanding of its potentials and challenges for students' learning and development. Data collected through an online survey (N = 201) mixed standardized questions and open questions. Descriptive statistics and…

  9. Working with Gender Pedagogics at 14 Swedish Preschools

    ERIC Educational Resources Information Center

    Sandstrom, Margareta; Stier, Jonas; Sandberg, Anette

    2013-01-01

    In Sweden, gender pedagogics has been on the political agenda the last decade. Consequently, gender matters have been given much attention in Swedish preschools, and specialized pedagogues have also been trained to counteract socially constructed gender distinctions. Therefore, we have explored the enactment of gender pedagogics. We asked 17…

  10. Non-Native Speakers Learning Swedish Together in Virtual Interaction

    ERIC Educational Resources Information Center

    Bergman, Hilkka; Tedremaa-Levorato, Kristiina

    2013-01-01

    This paper aims to give an overview of a cooperation project launched three years ago, under which students who study Swedish at two universities across the Baltic Sea have a chance to complete a part of relevant courses in their study programmes together in an online course. The primary goals of joint studying are: to encourage students from…

  11. A Climate of Trust: A Visit to Two Swedish Schools.

    ERIC Educational Resources Information Center

    Nordgren, R. D.

    This paper describes a Florida educator's visit to two Swedish schools for students aged 16 to 19. The educator spent 2 days visiting Duveholmsskolan in Katrineholm (about 70 miles west of Stockholm) and 3 days visiting Wargentinsskolan in Ostersund (situated 350 miles north of Stockholm and about 200 miles south of the Arctic Circle) observing…

  12. A Swedish Mutual Support Society of Problem Gamblers

    ERIC Educational Resources Information Center

    Binde, Per

    2012-01-01

    Mutual support societies for problem gamblers have existed in Sweden for 20 years. They have helped more people with gambling problems than any other institution inside or outside the Swedish health care system. This paper outlines the background of these societies and describes the meetings of one of them. Data come from interviews with members…

  13. Swedish Behavioural Science Research Reports. Beteendevetenskapliga Rapporter, 1982/1983.

    ERIC Educational Resources Information Center

    Jungskar, Marianne, Ed.

    This is the 1982-83 version of an annual catalogue of abstracts of the research reports published by the institutes of psychology and education in universities and teacher training colleges in Sweden. The abstracts are in English. (Abstracts of both English and Swedish papers are included.) The reports are grouped into the following broad subjects…

  14. Swedish Behavioural Science Research Reports, 1981/1982. (Beteendevetenskapliga Rapporter).

    ERIC Educational Resources Information Center

    Jungskar, Marianne, Ed.

    The 1981-1982 annual abstract publication on Swedish behavioral science research reports is presented. The collection of data was completed on May 15, 1982. The reports are grouped in categories according to Psychological Abstracts and EUDISED Thesaurus (multilingual thesaurus for information processing in the field of education). The ERIC…

  15. Personal and Ethnic Identity in Swedish Adolescents and Emerging Adults

    ERIC Educational Resources Information Center

    Ferrer-Wreder, Laura; Trost, Kari; Lorente, Carolyn Cass; Mansoory, Shahram

    2012-01-01

    The chapter describes empirical evidence about identity development in Swedish adolescents and emerging adults and highlights cultural and contextual influences that may be specific to coming of age in Sweden. Broad trends in identity options are evident in the lives of many youth living in Sweden. Although research on identity and diversity is in…

  16. English as a Transcultural Language in Swedish Policy and Practice

    ERIC Educational Resources Information Center

    Hult, Francis M.

    2012-01-01

    The globalization of English in Sweden is examined as it takes shape in educational policy and practice. Following in the tradition of a "new wave" of language policy and planning research that emphasizes connections between policy and how it is interpreted by local stakeholders, this investigation focuses on textual data from Swedish national…

  17. Management by Objectives: The Swedish Experience in Upper Secondary Schools

    ERIC Educational Resources Information Center

    Lindberg, Erik; Wilson, Timothy L.

    2011-01-01

    Purpose: This paper seeks to explore how managing by objectives (MBO) has been adopted in Swedish schools and to reflect on some of the consequences in a longitudinal study. Results relate to whether introduction has increased student performance and whether it works as a tool for the principals to create more effective schools.…

  18. Mixed Age Groups in Swedish Nursery School and Compulsory School.

    ERIC Educational Resources Information Center

    Sundell, Knut

    Before 1970, no mixed-age groups existed in Swedish nursery schools. By 1991, 43 percent of children enrolled in nursery school were in mixed-age groups of ages 1 to 6 years, and 37 percent were in groups of children ages 3 to 6 years. Mixed-age groups are assumed to have advantages, including positive influences on learning and social…

  19. Institutional Response to the Swedish Model of Quality Assurance.

    ERIC Educational Resources Information Center

    Nilsson, Karl-Axel; Wahlen, Staffan

    2000-01-01

    Evaluates the Swedish model of quality assurance of higher education by examining the response of institutions to 27 quality audits and 19 follow-up interviews. Discusses the relationship between top-down and bottom-up approaches to internal quality assurance and suggests that, with growing professionalization, more limited result-oriented audits…

  20. Economic valuation for sustainable development in the Swedish coastal zone.

    PubMed

    Söderqvist, Tore; Eggert, Håkan; Olsson, Björn; Soutukorva, Asa

    2005-03-01

    The Swedish coastal zone is a scene of conflicting interests about various goods and services provided by nature. Open-access conditions and the public nature of many services increase the difficulty in resolving these conflicts. "Sustainability" is a vague but widely accepted guideline for finding reasonable trade-offs between different interests. The UN view of sustainable development suggests that coastal zone management should aim at a sustainable ecological, economic, and social-cultural development. Looking closer at economic sustainability, it is observed that economic analyses about whether changes in society imply a gain or a loss should take into account the economic value of the environment. Methods used for making such economic valuation in the context of the Swedish coastal zone are briefly reviewed. It is noted that the property rights context matters for the results of a valuation study. This general background is followed by a concise presentation of the design and results of four valuation studies on Swedish coastal zone issues. One study is on the economic value of an improved bathing water quality in the Stockholm archipelago. The other studies are a travel cost study about the economic value of improved recreational fisheries in the Stockholm archipelago, a replacement cost study on the value of restoring habitats for sea trout, and a choice experiment study on the economic value of improved water quality along the Swedish westcoast. PMID:15865316

  1. LANDSAT language at our reach. First Swedish satellite. Civilization detectors

    NASA Technical Reports Server (NTRS)

    Wayne, D. L.; Bravo, V.

    1981-01-01

    Information on the use of LANDSAT data by Argentina is presented. Details on a Swedish satellite to be completed in 1984 and to be called VIKING are reported. Attempts to contact other civilizations in space by the use of radiotelescopes are discussed.

  2. Are the Swedish Parish Examination Records a Unique Phenomenon?

    ERIC Educational Resources Information Center

    Zipernovszky, Hanna

    2003-01-01

    This paper introduces the possibility of comparing Hungarian parish records to Swedish Parish Examination Records from an educational point of view. The focus is on a presentation of one particular document of a Hungarian Catholic priest in a small village from the early 19th century. The record keeps track of the reading and writing skills of…

  3. Career Interruptions and Subsequent Earnings: A Reexamination Using Swedish Data.

    ERIC Educational Resources Information Center

    Albrecht, James W.; Edin, Per-Anders; Sundstrom, Marianne; Vroman, Susan B.

    1999-01-01

    Cross-sectional and panel estimations of Swedish data reveal that different types of career interruptions have different effects on wages, varying by gender. Therefore, human capital depreciation does not entirely account for the negative effect of career interruptions on subsequent wages. (SK)

  4. Language Acquisition in the Swedish-Speaking Minority in Finland.

    ERIC Educational Resources Information Center

    Brunell, A. Viking

    1991-01-01

    Documents the differences in language acquisition and school achievement between Finnish- and Swedish-speaking students in Finland's comprehensive school systems. Discusses the need for language maintenance and enrichment measures in both out-of-school and in-school environments. (SR)

  5. Swedish Schools and Gender Equality in the 1970s

    ERIC Educational Resources Information Center

    Hedlin, Maria

    2013-01-01

    In Sweden, as in many countries before Sweden, boys' academic achievements are getting considerable attention as the big gender issue. The Swedish gender equality policy that was put on the agenda in the 1970s is now associated with extreme discussions. This study aims to explore how gender equality was discussed in the 1970s, in connection with…

  6. Swedish Preschool Leadership--Supportive of Music or Not?

    ERIC Educational Resources Information Center

    Ehrlin, Anna

    2015-01-01

    This study uses observations and interviews to investigate how the leadership at three Swedish preschools in Sweden has impacted the didactic choices made. Two of these preschools use music as a tool for stimulating language and social development, while the third preschool serves as a comparison. The inspiration that the leadership has brought to…

  7. Efficiency in Swedish Public Education: Competition and Voter Monitoring

    ERIC Educational Resources Information Center

    Waldo, Staffan

    2007-01-01

    Sweden reformed public education in 1991-1993. A system with private school competition was introduced and the production of public education was decentralized from central to local government. One of the aims with this reform was to increase efficiency in the production of education. In this paper, efficiency in Swedish public education is…

  8. An Individual Educational Investment Account: A Swedish Proposal.

    ERIC Educational Resources Information Center

    Eliasson, Gunnar

    1994-01-01

    For mature industrialized nations to meet the challenge of shifting to a high value added technology base, excellence in three areas is needed: (1) education, (2) labor market performance, and (3) social insurance. A Swedish proposal that would allow individuals to take responsibility for their own future is the individual educational investment…

  9. On the "Vulnerability" of Syntactic Domains in Swedish and German

    ERIC Educational Resources Information Center

    Bohnacker, Ute

    2007-01-01

    This article investigates the L2 acquisition of clausal syntax in postpuberty learners of German and Swedish regarding V2, VP headedness, and verb particle constructions. The learner data are tested against L2 theories according to which lower structural projections (VP) are acquired before higher functional projections (IP, CP), VP syntax is…

  10. Effective Mathematics Teaching in Finnish and Swedish Teacher Education Discourses

    ERIC Educational Resources Information Center

    Hemmi, Kirsti; Ryve, Andreas

    2015-01-01

    This article explores effective mathematics teaching as constructed in Finnish and Swedish teacher educators' discourses. Based on interview data from teacher educators as well as data from feedback discussions between teacher educators and prospective teachers in Sweden and Finland, the analysis shows that several aspects of the recent…

  11. Pregnancy rate and outcome in Swedish women with Turner syndrome.

    PubMed

    Bryman, Inger; Sylvén, Lisskulla; Berntorp, Kerstin; Innala, Eva; Bergström, Ingrid; Hanson, Charles; Oxholm, Marianne; Landin-Wilhelmsen, Kerstin

    2011-06-30

    Pregnancies occurred in 57 (12%) of 482 Swedish women with Turner syndrome with a liveborn rate of 54% in 124 pregnancies. Spontaneous pregnancies occurred in 40%, mainly in women with 45,X/46,XX mosaicism, and oocyte donation in 53% where miscarriages were less frequent, odds ratio = 0.43 (95% confidence interval 0.17-1.04). PMID:21256486

  12. Students with Reading Difficulties/Dyslexia: A Longitudinal Swedish Example

    ERIC Educational Resources Information Center

    Mattson, Eva Heimdahl; Fischbein, Siv; Roll-Pettersson, Lise

    2010-01-01

    The aim of this study was to investigate the longitudinal development of students having difficulties with reading and their decoding ability in Swedish compulsory school. Another aim was to relate this to the experiences of educational activities expressed by students and parents. The decoding ability was assessed by a word chain test given at…

  13. The Discovery of the Social Life of Swedish Schoolchildren

    ERIC Educational Resources Information Center

    Larsson, Anna

    2012-01-01

    This article demonstrates the "discovery of the social life of schoolchildren" by showing how an interest for children's peer relations emerged in a Swedish educational and medial context. Drawing on historical and sociological childhood studies, the article analyses the concept of schoolchildren's social life in the 1950s, 1960s and 1970s in…

  14. Resisting Focalisation, Gaining Empathy: Swedish Teenagers Read Irish Fiction

    ERIC Educational Resources Information Center

    Fjällström, Eva; Kokkola, Lydia

    2015-01-01

    Resisting the will to empathise with a focalised character is assumed to be difficult for young readers, yet empirical evidence on how they actually respond is limited. This paper combines recent insights gleaned from cognitive literary studies with a small-scale empirical study of thirty-five Swedish adolescents reading an Irish short story in…

  15. Autosomal dominant Kufs` disease: Clinical heterogeneity in nine families, and exclusion of linkage to CLN1 and CLN3 markers in a large American kindred

    SciTech Connect

    Andermann, F.; Andermann, E.; Carpenter, S.

    1994-09-01

    Most forms of neuronal ceroid lipofuscinosis (NCL) are autosomal recessive, and three genes have already been mapped: the infantile form (CLN 1); the juvenile form (CLN 3); and the early juvenile variant (CLN 5) on chromosomes 1, 16 and 13, respectively. Kufs` disease or adolescent-adult onset NCL is usually inherited as an autosomal recessive trait, and presents as three distinct clinical syndromes: progressive myoclonus epilepsy (PME) with onset in the early teens or around age 30; and onset of dementia with motor disability in the 30s. We have studied three families originating from different parts of the USA manifesting dominantly inherited Kufs` disease. Granular osmophilic deposits (GROD) were found in brain, but storage in skin was not an obligatory feature. Six dominantly inherited PME families have been ascertained from three different regions of Spain. No storage was found in skin or muscle in any of these families. The mean age of onset in the American families is earlier, the clinical manifestations more severe, and the progression much more rapid that in the Spanish families. These findings would suggest the possibility of genetic heterogeneity involving two or more loci, or different mutations at the same gene locus. Genetic linkage studies have been carried out in a six-generation New Jersey family in an attempt to characterize the gene(s) responsible for this disorder. The infantile NCL locus on chromosome 1p (CLN1) and the juvenile NCL locus on chromosome 16p (CLN 3) have been excluded in this family. Further clinical, pathological and molecular genetic studies should lead to the clarification of the diagnostic approaches in this disorder.

  16. Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: Implications for genetic testing

    PubMed Central

    Papp, Janos; Kovacs, Marietta E; Olah, Edith

    2007-01-01

    AIM: To analyze the prevalence of germline MLH1 and MSH2 gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families. METHODS: Thirty-six kindreds were tested for mutations using conformation sensitive gel electrophoreses, direct sequencing and also screening for genomic rearrangements applying multiplex ligation-dependent probe amplification (MLPA). RESULTS: Eighteen germline mutations (50%) were identified, 9 in MLH1 and 9 in MSH2. Sixteen of these sequence alterations were considered pathogenic, the remaining two were non-conservative missense alterations occurring at highly conserved functional motifs. The majority of the definite pathogenic mutations (81%, 13/16) were found in families fulfilling the stringent Amsterdam I/II criteria, including three rearrangements revealed by MLPA (two in MSH2 and one in MLH1). However, in three out of sixteen HNPCC-suspected families (19%), a disease-causing alteration could be revealed. Furthermore, nine mutations described here are novel, and none of the sequence changes were found in more than one family. CONCLUSION: Our study describes for the first time the prevalence and spectrum of germline mismatch repair gene mutations in Hungarian HNPCC and suspected-HNPCC families. The results presented here suggest that clinical selection criteria should be relaxed and detection of genomic rearrangements should be included in genetic screening in this population. PMID:17569143

  17. Environmental Management in Swedish Higher Education: Directives, Driving Forces, Hindrances, Environmental Aspects and Environmental Co-Ordinators in Swedish Universities

    ERIC Educational Resources Information Center

    Sammalisto, Kaisu; Arvidsson, Karin

    2005-01-01

    Purpose: This study of environment management systems implementation in Swedish universities contributes to the dialogue about the role of management systems as tools in developing sustainability in higher education. Design/methodology/approach: The empirical study is based on Government directives that make environmental management systems…

  18. Consumer preferences for over-the-counter drug retailers in the reregulated Swedish pharmacy market.

    PubMed

    Håkonsen, Helle; Sundell, Karolina Andersson; Martinsson, Johan; Hedenrud, Tove

    2016-03-01

    Following a large regulatory reform in 2009, which ended the state's pharmacy monopoly, non-pharmacy retailers in Sweden today sell certain over-the-counter (OTC) drugs. The aim of this study was to investigate consumer preferences regarding OTC drug retailers and the reasons for choosing a pharmacy versus non-pharmacy retailer. We conducted a web survey aimed at Swedish adults. Out of a stratified sample of 4058 persons, 2594 agreed to take part (48% women; mean age: 50.3 years). Questions related to OTC drug use, retailer choice and factors affecting the participants' preferences for OTC drug retailers. Logistic regression was conducted to analyse OTC drug use and reasons for retailer choice in relation to sex, age and education. Nine in ten participants reported OTC drug use in the 6 months prior to the study. For their last OTC purchase, 76% had gone to a pharmacy, 20% to a grocery shop and 4% to a convenience store, gas station or online. Geographic proximity, opening hours and product range were reported as the most important factors in retailer choice. Counselling by trained staff was important to 57% of participants. The end of the state's pharmacy monopoly and the increase in number of pharmacies seem to have impacted more on Swedish consumers' purchase behaviours compared with the deregulation of OTC drug sales. PMID:26861972

  19. A collective theory of happiness: words related to the word "happiness" in Swedish online newspapers.

    PubMed

    Garcia, Danilo; Sikström, Sverker

    2013-06-01

    It may be suggested that the representation of happiness in online media is collective in nature because it is a picture of happiness communicated by relatively few individuals to the masses. The present study is based on articles published in Swedish daily online newspapers in 2010; the data corpus comprises 1.5 million words. We investigated which words were most (un)common in articles containing the word "happiness" as compared with articles not containing this word. The results show that words related to people (by use of all relevant pronouns: you/me and us/them); important others (e.g., grandmother, mother); the Swedish royal wedding (e.g., Prince Daniel, Princess Victoria); and the FIFA World Cup (e.g., Zlatan, Argentina, Drogba) were highly recurrent in articles containing the word happiness. In contrast, words related to objects, such as money (e.g., millions, billions), bestselling gadgets (e.g., iPad, iPhone), and companies (e.g., Google, Windows), were predictive of contexts not recurrent with the word happiness. The results presented here are in accordance with findings in the happiness literature showing that relationships, not material things, are what make people happy. We suggest that our findings mirror a collective theory of happiness, that is, a shared picture or agreement, among members of a community, concerning what makes people happy. The fact that this representation is made public on such a large scale makes it collective in nature. PMID:23621718

  20. Assessment of past exposure to man-made vitreous fibers in the Swedish prefabricated house industry.

    PubMed

    Plato, N; Gustavsson, P; Krantz, S

    1997-10-01

    Large quantities of man-made vitreous fibers (MMVF) are handled in the Swedish prefabricated wooden house industry. The present study is part of a program to investigate mortality, cancer incidence, and current as well as previous exposure to MMVF among workers in the Swedish prefabricated wooden house industry. Since measurements of historical fiber exposure levels are lacking, these were calculated by the application of a matrix of multipliers to recently measured MMVF levels. The multipliers represented changes over time in production rate, technical properties of the fibers, manual handling vs. automation, and ventilation control. The multipliers were based on a similar matrix, developed for the MMVF-manufacturing industry, which was modified to reflect the conditions in the wooden house industry. The model was developed for the highest-exposed job title in the study, insulators. One hundred and twenty samples of airborne fiber were taken in 11 plants to reflect current exposure levels. The highest mean fiber exposure level for insulators was assessed as 0.18 f/ml (geometric mean), which occurred during the mid-1970s, compared to 0.10 f/ml at the end of the 1980s and the early 1960s. Changes in production rate, improved ventilation control, and the surface area of the total amount of MMVF sheets handled per insulator were the most important variables of the model. No increased risk of lung cancer was found in the present industry. PMID:9258388

  1. Design of a Prototype Differential Die-Away Instrument Proposed for Swedish Spent Nuclear Fuel Characterization

    NASA Astrophysics Data System (ADS)

    Martinik, Tomas; Henzl, Vladimir; Grape, Sophie; Jansson, Peter; Swinhoe, Martyn T.; Goodsell, Alison V.; Tobin, Stephen J.

    2016-06-01

    As part of the United States (US) Department of Energy's Next Generation Safeguards Initiative Spent Fuel (NGSI-SF) project, the traditional Differential Die-Away (DDA) method that was originally developed for waste drum assay has been investigated and modified to provide a novel application to characterize or verify spent nuclear fuel (SNF). Following the promising, yet largely theoretical and simulation based, research of physics aspects of the DDA technique applied to SNF assay during the early stages of the NGSI-SF project, the most recent effort has been focused on the practical aspects of developing the first fully functional and deployable DDA prototype instrument for spent fuel. As a result of the collaboration among US research institutions and Sweden, the opportunity to test the newly proposed instrument's performance with commercial grade SNF at the Swedish Interim Storage Facility (Clab) emerged. Therefore the design of this instrument prototype has to accommodate the requirements of the Swedish regulator as well as specific engineering constrains given by the unique industrial environment. Within this paper, we identify key components of the DDA based instrument and we present methodology for evaluation and the results of a selection of the most relevant design parameters in order to optimize the performance for a given application, i.e. test-deployment, including assay of 50 preselected spent nuclear fuel assemblies of both pressurized (PWR) as well as boiling (BWR) water reactor type.

  2. Cancer risks in twins and singletons from twin and non-twin families.

    PubMed

    Chen, Lingjing; Cnattingius, Sven; Nyman Iliadou, Anastasia; Oberg, Anna Sara

    2016-03-01

    The unique intrauterine environment has been proposed to put twins at increased risk of certain cancers compared to singletons, still large population comparisons have generally indicated lower risks in twins. To improve the understanding of potential twin influence on cancer we compared twins to their singletons siblings, to target a unique twinning influence. Singletons from twin families were contrasted to singletons from non-twin families to further capture potential twin family influence on risk of cancer. Family relations were identified using the Swedish Multi-Generation Register. Among individuals born between 1932 and 1958, 49,156 twins and N = 35,227 singletons were identified from 18,098 unique twin families. All incident cases of specific cancer types were identified in the National Cancer Register up to the end of 2007. Standardized survival functions were estimated using weighted Cox proportional hazard regression and the corresponding cumulative risks plotted against age. Overall, primary cancers were identified in 9% and 18% of all male and female twins, compared to 11% and 19% of their male and female singleton siblings. When specific cancer sites were compared using standardized cumulative risk plots, no consistent statistically significant differences were noted either between twins and singletons of twin families or between singletons of twin and non-twin families. Despite a different intrauterine experience, twinning does not seem to have any greater negative influence on life-time risks of cancer. The findings also indicate that twin family membership has no substantial influence on cancer risks. PMID:26414953

  3. The Central Asiatic (Tibet, Xinjiang, Pamir) petrological collections of Sven Hedin (1865 1952) — Swedish explorer and adventurer

    NASA Astrophysics Data System (ADS)

    Weinberg, Roberto F.; Green, Owen R.

    2002-02-01

    During a 42 year period (1893-1935), the Swedish explorer Sven Hedin led and co-ordinated four expeditions to remote and inhospitable parts of Central Asia (Tibet, Xinjiang, Pamir). Along with collaborators he collected a diverse collection of just under 3100 petrological specimens. Petrographic examples of high pressure metamorphic blueschists, mantle peridotites and serpentinites, granitoids, K-rich alkaline lavas, mylonites, and a range of clastic and fossil rich carbonate sedimentary rocks are present. This collection is a major asset for scientists studying the history of continental collision between India and Asia, and the uplift of the Tibetan plateau. A spreadsheet listing all the samples collected during Hedin's first three expeditions into Tibet (commencing 1893, 1899, 1906) includes a brief description and location of each specimen, with additional information on the availability of thin sections. Samples are cross-referenced with the geographical position of Hedin's campsites indicated on maps published with his extensive reports. Most samples, and a number of thin sections, are available for loan from the Swedish Museum of Natural History, Stockholm. We also describe a smaller collection of specimens and thin sections from Hedin's fourth (1927-35, Sino-Swedish) expedition, currently housed at the Institute of Earth Sciences, Uppsala University. Hedin's career as an explorer, highlighting the geological significance of his work and the reasons that it has remained largely ignored by the majority of Himalayan and Central Asian researchers for so many years, is outlined.

  4. Familiality of Tourette Syndrome, Obsessive-Compulsive Disorder, and Attention-Deficit/Hyperactivity Disorder: Heritability Analysis in a Large Sib-Pair Sample

    ERIC Educational Resources Information Center

    Mathews, Carol A.; Grados, Marco A.

    2011-01-01

    Objective: Tourette syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relations between these disorders have not been clearly elucidated. This study examined the familial relations among TS,…

  5. Resident Owners, Hired Managers and Hired, Full-Time Workers of Large Wisconsin Farms: Background-SES, Family Structure and Behavioral Integration Characteristics.

    ERIC Educational Resources Information Center

    Rodefeld, Richard D.; Lancelle, Mark

    The organizational structure of farms is changing. Farm numbers have declined, sizes have increased, and changes have evolved in levels and types of structural differentiation. Corresponding changes have occurred in the farm work force, its socioeconomic status, family structure, and behavioral characteristics. The impact may be considerable. A…

  6. The Quality of Teachers' Interactive Conversations with Preschool Children from Low-Income Families during Small-Group and Large-Group Activities

    ERIC Educational Resources Information Center

    Chen, Jennifer J.; de Groot Kim, Sonja

    2014-01-01

    This study examined the quality of preschool teachers' interactive conversations with three- and four-year-olds in two Head Start classrooms serving children from low-income families in the United States. Over a period of 20?weeks, 10 bi-weekly observations of conversations (totaling 15?h per classroom) were conducted in one small-group (Play…

  7. Increasing rates of brain tumours in the Swedish national inpatient register and the causes of death register.

    PubMed

    Hardell, Lennart; Carlberg, Michael

    2015-04-01

    Radiofrequency emissions in the frequency range 30 kHz-300 GHz were evaluated to be Group 2B, i.e., "possibly", carcinogenic to humans by the International Agency for Research on Cancer (IARC) at WHO in May 2011. The Swedish Cancer Register has not shown increasing incidence of brain tumours in recent years and has been used to dismiss epidemiological evidence on a risk. In this study we used the Swedish National Inpatient Register (IPR) and Causes of Death Register (CDR) to further study the incidence comparing with the Cancer Register data for the time period 1998-2013 using joinpoint regression analysis. In the IPR we found a joinpoint in 2007 with Annual Percentage Change (APC) +4.25%, 95% CI +1.98, +6.57% during 2007-2013 for tumours of unknown type in the brain or CNS. In the CDR joinpoint regression found one joinpoint in 2008 with APC during 2008-2013 +22.60%, 95% CI +9.68, +37.03%. These tumour diagnoses would be based on clinical examination, mainly CT and/or MRI, but without histopathology or cytology. No statistically significant increasing incidence was found in the Swedish Cancer Register during these years. We postulate that a large part of brain tumours of unknown type are never reported to the Cancer Register. Furthermore, the frequency of diagnosis based on autopsy has declined substantially due to a general decline of autopsies in Sweden adding further to missing cases. We conclude that the Swedish Cancer Register is not reliable to be used to dismiss results in epidemiological studies on the use of wireless phones and brain tumour risk. PMID:25854296

  8. A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.

    PubMed

    Silander, Kaisa; Scott, Laura J; Valle, Timo T; Mohlke, Karen L; Stringham, Heather M; Wiles, Kerry R; Duren, William L; Doheny, Kimberly F; Pugh, Elizabeth W; Chines, Peter; Narisu, Narisu; White, Peggy P; Fingerlin, Tasha E; Jackson, Anne U; Li, Chun; Ghosh, Soumitra; Magnuson, Victoria L; Colby, Kimberly; Erdos, Michael R; Hill, Jason E; Hollstein, Pablo; Humphreys, Kathleen M; Kasad, Roshni A; Lambert, Jessica; Lazaridis, Konstantinos N; Lin, George; Morales-Mena, Anabelle; Patzkowski, Kristin; Pfahl, Carrie; Porter, Rachel; Rha, David; Segal, Leonid; Suh, Yong D; Tovar, Jason; Unni, Arun; Welch, Christian; Douglas, Julie A; Epstein, Michael P; Hauser, Elizabeth R; Hagopian, William; Buchanan, Thomas A; Watanabe, Richard M; Bergman, Richard N; Tuomilehto, Jaakko; Collins, Francis S; Boehnke, Michael

    2004-03-01

    The aim of the Finland-United States Investigation of NIDDM Genetics (FUSION) study is to identify genes that predispose to type 2 diabetes or are responsible for variability in diabetes-related traits via a positional cloning and positional candidate gene approach. In a previously published genome-wide scan of 478 Finnish affected sibling pair (ASP) families (FUSION 1), the strongest linkage results were on chromosomes 20 and 11. We now report a second genome-wide scan using an independent set of 242 Finnish ASP families (FUSION 2), a detailed analysis of the combined set of 737 FUSION 1 + 2 families (495 updated FUSION 1 families), and fine mapping of the regions of chromosomes 11 and 20. The strongest FUSION 2 linkage results were on chromosomes 6 (maximum logarithm of odds score [MLS] = 2.30 at 95 cM) and 14 (MLS = 1.80 at 57 cM). For the combined FUSION 1 + 2 families, three results were particularly notable: chromosome 11 (MLS = 2.98 at 82 cM), chromosome 14 (MLS = 2.74 at 58 cM), and chromosome 6 (MLS = 2.66 at 96 cM). We obtained smaller FUSION 1 + 2 MLSs on chromosomes X (MLS = 1.27 at 152 cM) and 20p (MLS = 1.21 at 20 cM). Among the 10 regions that showed nominally significant evidence for linkage in FUSION 1, four (on chromosomes 6, 11, 14, and X) also showed evidence for linkage in FUSION 2 and stronger evidence for linkage in the combined FUSION 1 + 2 sample. PMID:14988269

  9. FAMILY BOMBYLIIDAE.

    PubMed

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-01-01

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world. PMID:27395279

  10. Increasing Genetic Variance of Body Mass Index during the Swedish Obesity Epidemic

    PubMed Central

    Rokholm, Benjamin; Silventoinen, Karri; Tynelius, Per; Gamborg, Michael; Sørensen, Thorkild I. A.; Rasmussen, Finn

    2011-01-01

    Background and Objectives There is no doubt that the dramatic worldwide increase in obesity prevalence is due to changes in environmental factors. However, twin and family studies suggest that genetic differences are responsible for the major part of the variation in adiposity within populations. Recent studies show that the genetic effects on body mass index (BMI) may be stronger when combined with presumed risk factors for obesity. We tested the hypothesis that the genetic variance of BMI has increased during the obesity epidemic. Methods The data comprised height and weight measurements of 1,474,065 Swedish conscripts at age 18–19 y born between 1951 and 1983. The data were linked to the Swedish Multi-Generation Register and the Swedish Twin Register from which 264,796 full-brother pairs, 1,736 monozygotic (MZ) and 1,961 dizygotic (DZ) twin pairs were identified. The twin pairs were analysed to identify the most parsimonious model for the genetic and environmental contribution to BMI variance. The full-brother pairs were subsequently divided into subgroups by year of birth to investigate trends in the genetic variance of BMI. Results The twin analysis showed that BMI variation could be explained by additive genetic and environmental factors not shared by co-twins. On the basis of the analyses of the full-siblings, the additive genetic variance of BMI increased from 4.3 [95% CI 4.04–4.53] to 7.9 [95% CI 7.28–8.54] within the study period, as did the unique environmental variance, which increased from 1.4 [95% CI 1.32–1.48] to 2.0 [95% CI 1.89–2.22]. The BMI heritability increased from 75% to 78.8%. Conclusion The results confirm the hypothesis that the additive genetic variance of BMI has increased strongly during the obesity epidemic. This suggests that the obesogenic environment has enhanced the influence of adiposity related genes. PMID:22087252

  11. Incidence of hand eczema in female Swedish hairdressers

    PubMed Central

    Lind, Marie‐Louise; Albin, Maria; Brisman, Jonas; Diab, Kerstin Kronholm; Lillienberg, Linnéa; Mikoczy, Zoli; Nielsen, Jörn; Rylander, Lars; Torén, Kjell; Meding, Birgitta

    2007-01-01

    Objective To estimate the occurrence of hand eczema in hairdressers in Sweden. Methods The occurrence of hand eczema was estimated in a Swedish longitudinal retrospective cohort study including all female graduates from vocational schools for hairdressers from 1970 to 1995. A stratified sample from the general population acted as controls. A self‐administered questionnaire including questions on the occurrence of hand eczema, skin atopy, working periods and number of hair treatments performed per week was sent to the participants. Incidence rate ratios (IRRs) of hand eczema were estimated. Results The incidence rate of hand eczema in hairdressers was 23.8 cases/1000 person‐years, whereas in hairdressers who were aged <25 years it was 37.1/1000 person‐years. The corresponding IRR for hairdressers compared with controls was 2.5 (95% confidence interval (CI) 2.2 to 2.8), and that for younger hairdressers was 3.1 (95% CI 2.6 to 3.5). The mean age at onset of hand eczema was 21.6 years for hairdressers and 21.2 years for controls. The 1‐year prevalence of hand eczema was 18.0% for hairdressers and 12.1% for controls. A large number of hair treatments involving exposure to skin irritants and sensitisers were reported. The incidence rate of hand eczema was higher among individuals with a history of childhood eczema, both for hairdressers and for controls, giving an (age‐adjusted) IRR of 1.9 and 2.2, respectively. The attributable fraction of hand eczema from skin atopy was 9.6%. A synergistic effect of skin atopy and hairdressing was found on the occurrence of hand eczema. The relative excess risk due to interaction was 1.21 (95% CI 0.21 to 2.21; p = 0.01). Conclusion Hairdressers are highly exposed to skin‐damaging substances. The self‐reported incidence of hand eczema was substantially higher in female hairdressers than in controls from the general population and than that found previously in register‐based studies. For many individuals, onset

  12. [Charlotte Yhlén--the first Swedish woman becoming a medical doctor. She had to move from Sweden to work as a physician].

    PubMed

    Bro, Tomas

    Charlotte Yhlén (1839-1919) was the first Swedish woman with medical education. New research has shed light on this forgotten pioneer. Charlotte was born in a Southern Sweden in a family without academical tradition. In her youth she got inspired by the woman emancipation movement. At an age of 28 she emigrated to the USA and studied at the Woman's Medical College of Pennsylvania. Her student thesis dealt with glaucoma. After graduation, Charlotte applied for work in Sweden but got rejected. Therefore, she moved back to the USA to work at Woman's Hospital of Philadelphia and later with a private practice as a general practitioner. In 1874, she married a Norwegian engineer and the couple got two children. Her husband's successful company Tinius Olsen Company was probably the reason why she gave up her medical career in her 50s. The article describes the conditions for love and work for the first Swedish women with academical education. PMID:24494405

  13. Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients.

    PubMed

    Parmar, A S; Lappalainen, M; Paavola-Sakki, P; Halme, L; Färkkilä, M; Turunen, U; Kontula, K; Aromaa, A; Salomaa, V; Peltonen, L; Halfvarson, J; Törkvist, L; D'Amato, M; Saavalainen, P; Einarsdottir, E

    2012-09-01

    Some genetic loci may affect susceptibility to multiple immune system-related diseases. In the current study, we investigated whether the known susceptibility loci for celiac disease (CelD) also associate with Crohn's disease (CD) and/or ulcerative colitis (UC), the two main forms of inflammatory bowel disease (IBD), in Finnish patients. A total of 45 genetic markers were genotyped in a Finnish data set comprising 699 IBD patients and 2482 controls. Single-marker association with IBD and its subphenotypes was tested. A meta-analysis with a Swedish UC data set was also performed. A total of 12 single-nucleotide polymorphisms associated with CD and/or UC (P<0.05). In the subphenotype analysis, rs6974491-ELMO1 (P=0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P=5.44 × 10(-5), OR: 2.59) associated with pediatric UC and CD, respectively. In the meta-analysis, rs4819388-ICOSLG (P=0.00042, OR: 0.79) associated with UC. In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. Multiple CelD risk loci also confer susceptibility for CD and/or UC in the Finnish and Swedish populations. Certain genetic risk variants may furthermore predispose an individual for developing a particular disease phenotype. PMID:22592522

  14. Family size effects: a review.

    PubMed

    Wagner, M E; Schubert, H J; Schubert, D S

    1985-03-01

    Larger families are more frequent with early marriage and rapid birth of the first child. In larger families, child rearing becomes more rule ridden, less individualized, with corporal punishment and less investment of resources. Smaller families tend to result in higher IQ, academic achievement, and occupational performance. Large families produce more delinquents and alcoholics. Perinatal morbidity and mortality rates are higher in large families as birth weights decrease. Mothers of large families are at higher risk of several physical diseases. Common methodological errors are indicated and exemplary studies are described. PMID:3900289

  15. Cancer risks in Swedish Lapps who breed reindeer

    SciTech Connect

    Wiklund, K.; Holm, L.E.; Eklund, G. )

    1990-12-01

    Cancer risks during the period 1961-1984 were studied in a cohort of 2,034 Swedish reindeer-breeding Lapps, a unique group whose culture and life-style differ considerably from those in the rest of the Swedish population. A total of 100 cases of cancer were observed versus 163 expected. Statistically significantly decreased risks were found for cancers of the colon, respiratory organs, female breast, male genital organs, and kidneys, and for malignant lymphomas. The stomach was the only site with a significantly increased risk. Reindeer-breeding Lapps have ingested fallout products via the lichen-reindeer-man food chain since the 1950s. However, no increased risk was found for the cancer sites considered to be most sensitive to radiation.

  16. Dengue fever in returned Swedish travelers from Thailand.

    PubMed

    Tuiskunen, Anne; Hjertqvist, Marika; Vene, Sirkka; Lundkvist, Ake

    2011-01-01

    The dengue viruses (DENV) are endemic in the tropical and sub-tropical countries and cause the most common arthropod-borne viral disease in humans. Travelers visiting endemic areas may both acquire and spread DENV infections, and this is the reason why prevention of mosquito bites is of crucial importance. Dengue fever (DF) has become the most common cause for tropical fever in Swedish tourists. Swedish data from 1995 to 2010 show that the number of DF cases has increased since the beginning of 2000; partly due to improved diagnostics based on IgM detection, and partly due to an increase in the number of tourists traveling to, and between, endemic areas. Young adults aged 20-29 are mostly affected, and epidemiological data indicate increased incidence rates from 2008 onwards. Our data pose a call for attention when traveling to DENV endemic areas as well as an increased awareness among physicians when treating returning travelers. PMID:22957112

  17. Possibility to implement invasive species control in Swedish forests.

    PubMed

    Pettersson, Maria; Strömberg, Caroline; Keskitalo, E Carina H

    2016-02-01

    Invasive alien species constitute an increasing risk to forestry, as indeed to natural systems in general. This study reviews the legislative framework governing invasive species in the EU and Sweden, drawing upon both a legal analysis and interviews with main national level agencies responsible for implementing this framework. The study concludes that EU and Sweden are limited in how well they can act on invasive species, in particular because of the weak interpretation of the precautionary principle in the World Trade Organisation and Sanitary and Phytosanitary agreements. In the Swedish case, this interpretation also conflicts with the stronger interpretation of the precautionary principle under the Swedish Environmental Code, which could in itself provide for stronger possibilities to act on invasive species. PMID:26744055

  18. Cancer incidence and mortality among Swedish smelter workers.

    PubMed Central

    Sandström, A I; Wall, S G; Taube, A

    1989-01-01

    Cancer incidence was analysed in a retrospective cohort of 3710 male Swedish smelter workers between 1958 and 1982 using a record linkage with the Swedish Cancer Register. During this period 467 cancers were registered in the cohort. An excess incidence of total cancer of about 30% was shown relative to general and local populations mainly due to 120 respiratory cancers. Excess SMRs for all cancer and respiratory cancer were highly significant. Trends in the incidence of cancer were studied using moving five year calendar periods. A decreasing rate of lung cancer was found during 1976-80 for both mortality and incidence. Incidence figures for two more years show a continued decreasing trend. This is validated by an analysis of different employment cohorts, taking latency into account, showing that the later the date of first employment the lower the incidence of cancer, especially for lung cancer. PMID:2923829

  19. The structure and stratigraphy of the sedimentary succession in the Swedish sector of the Baltic Basin: New insights from vintage 2D marine seismic data

    NASA Astrophysics Data System (ADS)

    Sopher, Daniel; Erlström, Mikael; Bell, Nicholas; Juhlin, Christopher

    2016-04-01

    We present five interpreted regional seismic profiles, describing the full sedimentary sequence across the Swedish sector of the Baltic Sea. The data for the study are part of an extensive and largely unpublished 2D seismic dataset acquired between 1970 and 1990 by the Swedish Oil Prospecting Company (OPAB). The Baltic Basin is an intracratonic basin located in northern Europe. Most of the Swedish sector of the basin constitutes the NW flank of a broad synclinal depression, the Baltic Basin. In the SW of the Swedish sector lies the Hanö Bay Basin, formed by subsidence associated with inversion of the Tornquist Zone during the Late Cretaceous. The geological history presented here is broadly consistent with previously published works. We observe an area between the Hanö Bay and the Baltic Basin where the Palaeozoic strata has been affected by transpression and subsequent inversion, associated with the Tornquist Zone during the late Carboniferous-Early Permian and Late Cretaceous, respectively. We propose that the Christiansø High was a structural low during the Late Jurassic, which was later inverted in the Late Cretaceous. We suggest that a fan shaped feature in the seismic data, adjacent to the Christiansø Fault within the Hanö Bay Basin, represents rapidly deposited, coarse-grained sediments eroded from the inverted Christiansø High during the Late Cretaceous. We identify a number of faults within the deeper part of the Baltic Basin, which we also interpret to be transpressional in nature, formed during the Caledonian Orogeny in the Late Silurian-Early Devonian. East of Gotland a number of sedimentary structures consisting of Silurian carbonate reefs and Ordovician carbonate mounds, as well as a large Quaternary glacial feature are observed. Finally, we use the seismic interpretation to infer the structural and stratigraphic history of the Baltic and Hanö Bay basins within the Swedish sector.

  20. Sleep disturbances among Swedish soldiers after military service abroad

    PubMed Central

    Pettersson, Karolina; Saers, Johannes; Lindberg, Eva; Janson, Christer

    2016-01-01

    Aims Since 1956, more than 100,000 Swedish soldiers have served abroad on various international missions. The aim of this paper was to determine whether there was a connection between military service abroad and sleep disorders among Swedish soldiers. Methods The prevalence of sleep disturbances among 1,080 veterans from Kosovo and Afghanistan was compared with almost 27,000 Swedes from a general population sample, using propensity score matching and logistic regression. The sleep disturbances studied were habitual snoring, difficulty inducing sleep (DIS), difficulty maintaining sleep (DMS), early morning awakenings (EMA), and excessive daytime sleepiness (EDS). Insomnia was defined as having at least one of DIS, DMS, or EMA. The covariates used in the matching and adjustments were age, gender, smoking habits, BMI, education, ever having had asthma, moist snuff, and exercise habits. Results The veterans had a significantly lower prevalence of insomnia (26.2% versus 30.4%) and EDS (22.7% versus 29.4%) compared with a matched group from the reference population, using propensity score matching. Analyses with logistic regression showed that belonging to the military population was related to a lower risk of having DMS (adjusted OR (95% CI) 0.77 (0.64–0.91)), insomnia (OR 0.82 (0.71–0.95)), and EDS (OR 0.74 (0.63–0.86)), whereas no significant difference was found for snoring, DIS, and EMA. Conclusion Swedish veterans have fewer problems with insomnia and daytime sleepiness than the general Swedish population. The explanation of our findings may be the selection processes involved in becoming a soldier and when sampling personnel for military assignments abroad. PMID:26959327

  1. Sleep disturbances among Swedish soldiers after military service abroad.

    PubMed

    Pettersson, Karolina; Saers, Johannes; Lindberg, Eva; Janson, Christer

    2016-03-01

    Aims Since 1956, more than 100,000 Swedish soldiers have served abroad on various international missions. The aim of this paper was to determine whether there was a connection between military service abroad and sleep disorders among Swedish soldiers. Methods The prevalence of sleep disturbances among 1,080 veterans from Kosovo and Afghanistan was compared with almost 27,000 Swedes from a general population sample, using propensity score matching and logistic regression. The sleep disturbances studied were habitual snoring, difficulty inducing sleep (DIS), difficulty maintaining sleep (DMS), early morning awakenings (EMA), and excessive daytime sleepiness (EDS). Insomnia was defined as having at least one of DIS, DMS, or EMA. The covariates used in the matching and adjustments were age, gender, smoking habits, BMI, education, ever having had asthma, moist snuff, and exercise habits. Results The veterans had a significantly lower prevalence of insomnia (26.2% versus 30.4%) and EDS (22.7% versus 29.4%) compared with a matched group from the reference population, using propensity score matching. Analyses with logistic regression showed that belonging to the military population was related to a lower risk of having DMS (adjusted OR (95% CI) 0.77 (0.64-0.91)), insomnia (OR 0.82 (0.71-0.95)), and EDS (OR 0.74 (0.63-0.86)), whereas no significant difference was found for snoring, DIS, and EMA. Conclusion Swedish veterans have fewer problems with insomnia and daytime sleepiness than the general Swedish population. The explanation of our findings may be the selection processes involved in becoming a soldier and when sampling personnel for military assignments abroad. PMID:26959327

  2. Swedish hunters' safety behaviour and experience of firearm incidents.

    PubMed

    Junuzovic, Mensura; Midlöv, Patrik; Lönn, Sara Larsson; Eriksson, Anders

    2013-11-01

    Since any firearm injury is potentially lethal, it is of great interest to prevent firearm incidents. This study investigated such incidents during hunting and Swedish hunters' safety behaviour. A 48-item questionnaire was posted to a random sample of 1000 members of the Swedish Association for Hunting and Wildlife Management. The questions considered demographics, hunting experience/hunting habits/safety behaviour/attitudes and experience of careless weapon handling, hunters' weapons and safety behaviour relating to weapons, health status, firearm incidents and their preventability, and personal comments on the questionnaire. The response rate was almost 50%. The mean age of the responders was 54 years; 5% were females. Almost none (1%) reported hunting under the influence of alcohol. Young age and male sex were positively associated with risk behaviour, although the presence of multiple risk behaviours in the same responder was not common. A very high degree of compliance with Swedish laws regarding weapon storage was reported. One-quarter of the responders had witnessed a firearm incident caused by another hunter, which in most situations did not result in human injury or death. An unsafetied weapon was the most common reported "cause" of these incidents. Experience of a firearm incident was not uncommon and the majority of the responders considered the incident in question to be preventable. This study provides a picture of the possible risk behaviour among hunters and the results suggest that future prevention work should target safer weapon handling. PMID:24018010

  3. Portrayals of lobotomy in American and Swedish media.

    PubMed

    Ogren, Kenneth

    2013-01-01

    Psychosurgery has a long history dating back to the 1880s when Gottlieb Burckhardt performed focal cerebral cortical excisions on the brains of six patients diagnosed with schizophrenia. His operations were vividly contested by the medical community of the time. In 1936, when Walter J. Freeman and James W. Watts performed their initial prefrontal lobotomies in the United States, they were met with some professional opposition from superintendents, who would not provide them with patients for the operation. However, Freeman and Watts managed to cope well with the opponents. In newspapers and magazines, the curiosity for lobotomy was obvious. Freeman was instrumental in the way he promoted lobotomy, and he evoked the interest of the press and the journalists for this new surgical treatment on mental illness, something that he regarded as a medico-historical breakthrough. In this chapter, the portrayal of lobotomy in American and Swedish newspapers and magazines is explored and analyzed. How did journalists write about lobotomy for the public in the years spanning 1936 to 1959, a period in which the American and Swedish presses appeared inclined to describe the positive effects of lobotomy, while neglecting the negative and fatal consequences of the operation. There are not only similarities but also interesting differences between the Swedish and the American articles depicting lobotomy. The media can be a powerful factor in the construction of "facts," which can significantly affect decisions made by people about their health issues. PMID:24290483

  4. High use of complementary and alternative medicine among a large cohort of women with a family history of breast cancer: the Sister Study.

    PubMed

    Greenlee, Heather; Sardo Molmenti, Christine L; Falci, Laura; Ulmer, Ross; Deming-Halverson, Sandra; DeRoo, Lisa A; Sandler, Dale P

    2016-04-01

    Use of complementary and alternative medicine (CAM) is high among U.S. women, yet information is limited on use among women at increased breast cancer risk. We analyzed CAM use among women with a family history of breast cancer. CAM use was analyzed among women enrolled 2003-2009 in the Sister Study cohort. Eligible women were aged 35-74, U.S. or Puerto Rican residents, no personal history of breast cancer, and had ≥1 sister with breast cancer. Baseline data on CAM use in the past year were available for 49,734 women. Logistic regression models examined the association between CAM use and Gail Model breast cancer risk score. Results were compared to female participants in the 2007 National Health Interview Survey (n = 7965). Among Sister Study participants, there was high use of vitamin/mineral supplements (79 %), mind-body practices (41 %), manipulative/body-based practices (32 %), and botanicals (23 %). Overall use was higher than the U.S. female population. No association was observed between familial breast cancer risk and CAM use. Black women were more likely to use spirituality/meditation-based CAM modalities, while non-Hispanic white and Asian women were high users of dietary supplements. In a cohort of women with increased breast cancer risk due to family history, CAM use is higher than women in the general U.S. population and is associated with race/ethnicity. Use was not associated with breast cancer risk. Given the high prevalence of CAM use among women at risk for breast caner, research on the effectiveness of CAM use for disease prevention is needed. PMID:27017506

  5. Reproductive history and post-reproductive mortality: A sibling comparison analysis using Swedish register data.

    PubMed

    Barclay, Kieron; Keenan, Katherine; Grundy, Emily; Kolk, Martin; Myrskylä, Mikko

    2016-04-01

    A growing body of evidence suggests that reproductive history influences post-reproductive mortality. A potential explanation for this association is confounding by socioeconomic status in the family of origin, as socioeconomic status is related to both fertility behaviours and to long-term health. We examine the relationship between age at first birth, completed parity, and post-reproductive mortality and address the potential confounding role of family of origin. We use Swedish population register data for men and women born 1932-1960, and examine both all-cause and cause-specific mortality. The contributions of our study are the use of a sibling comparison design that minimizes residual confounding from shared family background characteristics and assessment of cause-specific mortality that can shed light on the mechanisms linking reproductive history to mortality. Our results were entirely consistent with previous research on this topic, with teenage first time parents having higher mortality, and the relationship between parity and mortality following a U-shaped pattern where childless men and women and those with five or more children had the highest mortality. These results indicate that selection into specific fertility behaviours based upon socioeconomic status and experiences within the family of origin does not explain the relationship between reproductive history and post-reproductive mortality. Additional analyses where we adjust for other lifecourse factors such as educational attainment, attained socioeconomic status, and post-reproductive marital history do not change the results. Our results add an important new level of robustness to the findings on reproductive history and mortality by showing that the association is robust to confounding by factors shared by siblings. However it is still uncertain whether reproductive history causally influences health, or whether other confounding factors such as childhood health or risk-taking propensity could

  6. Frequent users of pornography. A population based epidemiological study of Swedish male adolescents.

    PubMed

    Svedin, Carl Göran; Akerman, Ingrid; Priebe, Gisela

    2011-08-01

    Frequent use of pornography has not been sufficiently studied before. In a Swedish survey 2015 male students aged 18 years participated. A group of frequent users of pornography (N = 200, 10.5%) were studied with respect to background and psychosocial correlates. The frequent users had a more positive attitude to pornography, were more often "turned on" viewing pornography and viewed more often advanced forms of pornography. Frequent use was also associated with many problem behaviours. A multiple logistic regression analysis showed that frequent users of pornography were more likely to be living in a large city, consuming alcohol more often, having greater sexual desire and had more often sold sex than other boys of the same age. High frequent viewing of pornography may be seen as a problematic behaviour that needs more attention from both parents and teachers and also to be addressed in clinical interviews. PMID:20888038

  7. Managing Swedish forestry's impact on mercury in fish: Defining the impact and mitigation measures.

    PubMed

    Eklöf, Karin; Lidskog, Rolf; Bishop, Kevin

    2016-02-01

    Inputs of anthropogenic mercury (Hg) to the environment have led to accumulation of Hg in terrestrial and aquatic ecosystems, contributing to fish Hg concentrations well above the European Union standards in large parts of Fennoscandia. Forestry operations have been reported to increase the concentrations and loads of Hg to surface waters by mobilizing Hg from the soil. This summary of available forestry effect studies reveals considerable variation in treatment effects on total Hg (THg) and methylmercury (MeHg) at different sites, varying from no effect up to manifold concentration increases, especially for the bioavailable MeHg fraction. Since Hg biomagnification depends on trophic structures, forestry impacts on nutrient flows will also influence the Hg in fish. From this, we conclude that recommendations for best management practices in Swedish forestry operations are appropriate from the perspective of mercury contamination. However, the complexity of defining effective policies needs to be recognized. PMID:26744051

  8. High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.

    PubMed

    Martínez-Bouzas, Cristina; Ojembarrena, Enrique; Beristain, Elena; Errasti, Javier; Viguera, Noelia; Tejada Minguéz, Maria-Isabel

    2007-10-01

    Hereditary nonpolyposis colorectal cancer (HNPCC), which represents the most common form of inherited colorectal cancer, results from germline alterations of the mismatch repair genes MSH2, MLH1 and MSH6. Rearrangements of MSH2 and MLH1 are involved in at least 10% and 4.3%, respectively, of the HNPCC families fulfilling the Amsterdam (AMS) criteria. We applied a recently developed method, multiplex ligation-dependent probe amplification (MLPA), to study MLH1/MSH2 copy number changes in 29 unrelated Basque Country HNPCC families. We detected six different genomic rearrangements in total (6/29=20.69%), four in MSH2 gene (13.79%), and two in MLH1 gene. All of the MSH2 rearrangements were genomic deletions involving several exons. The MLH1 rearrangements were initially detected as one deletion of exon 18 and one deletion of exon 19, but after sequencing analysis, these deletions were not confirmed and corresponded to base pair mutations. We conclude that MLPA is an excellent tool for detecting exon copy number changes in MLH1 and MSH2 in the DNA from HNPCC patients, although all detected rearrangements should be confirmed by an independent molecular methodology. Furthermore, our results in the Basque Country show higher percentages of rearrangements than previously published by other authors. PMID:17582678

  9. Incidence and familial risk of pleural mesothelioma in Sweden: a national cohort study.

    PubMed

    Ji, Jianguang; Sundquist, Jan; Sundquist, Kristina

    2016-09-01

    Familial clustering of pleural mesothelioma was reported previously, but none of the reports quantified the familial risk of mesothelioma or the association with other cancers. The contributions of shared environmental or genetic factors to the aggregation of mesothelioma were unknown.We used a number of Swedish registers, including the Swedish Multigeneration Register and the Swedish Cancer Register, to examine the familial risk of mesothelioma in offspring. Standardised incidence ratios (SIRs) were used to calculate the risk. Age standardised incidence rates of mesothelioma were calculated from the Swedish Cancer Registry.The incidence of mesothelioma reached its peak rate in 2000 and decreased thereafter. Risk of mesothelioma was significantly increased when parents or siblings were diagnosed with mesothelioma, with SIRs of 3.88 (95% CI 1.01-10.04) and 12.37 (95% CI 5.89-22.84), respectively. Mesothelioma was associated with kidney (SIR 2.13, 95% CI 1.16-3.59) and bladder cancers (SIR 2.09, 95% CI 1.32-3.14) in siblings. No association was found between spouses.Family history of mesothelioma, including both parental and sibling history, is an important risk factor for mesothelioma. Shared genetic factors may contribute to the observed familial clustering of mesothelioma, but the contribution of shared environmental factors could not be neglected. The association with kidney and bladder cancers calls for further study to explore the underlying mechanisms. PMID:27174879

  10. Family Meals

    MedlinePlus

    ... Story" 5 Things to Know About Zika & Pregnancy Family Meals KidsHealth > For Parents > Family Meals Print A ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  11. Family History

    MedlinePlus

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  12. Family Arguments

    MedlinePlus

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  13. Family History

    MedlinePlus

    ... CDC Cancel Submit Search The CDC Family Health History Note: Javascript is disabled or is not supported ... visit this page: About CDC.gov . Family Health History The Basics Family Health History & Chronic Disease Planning ...

  14. Family Folklore

    ERIC Educational Resources Information Center

    Kotkin, Amy J.; Baker, Holly C.

    1977-01-01

    Discusses the Family Folklore Program of the Smithsonian Institution's annual Festival of American Folklife, in which the whole family can be involved in tracing family history through story telling, photographs, etc. (MS)

  15. Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models

    PubMed Central

    Kopciuk, Karen A; Choi, Yun-Hee; Parkhomenko, Elena; Parfrey, Patrick; McLaughlin, John; Green, Jane; Briollais, Laurent

    2009-01-01

    Background Accurate risk (penetrance) estimates for associated phenotypes in carriers of a major disease gene are important for genetic counselling of at-risk individuals. Population-specific estimates of penetrance are often needed as well. Families ascertained from high-risk disease clinics provide substantial data to estimate penetrance of a disease gene, but these estimates must be adjusted for possible specific sources of bias. Methods A cohort of 12 independently ascertained HNPCC families harbouring a founder MSH2 mutation was identified from a cancer genetics clinic in St. John's, Newfoundland, Canada. Carrier status was known for 247 family members but phenotype information on up to 85 additional relatives with unknown carrier status was available; using modified segregation models these additional individuals could be included in the analyses. Three HNPCC-related phenotypes were evaluated as age at diagnosis of: any HNPCC cancer (first cancer), colorectal cancer (CRC), and endometrial cancer (EC) for females. Results Lifetime (age 70) risk estimates for male and female carriers were similar for developing any HNPCC cancer (Males = 98.2%, 95% Confidence Interval (CI) = (93.8%, 99.9%); Females = 92.8%, 95% CI = (82.4%, 99.1%)) but female carriers experienced substantially reduced lifetime risk for developing CRC compared to male carriers (Females = 38.9%, 95% CI = (24.2%, 62.1%); Males = 84.5%, 95% CI = (67.3%, 91.3%)). Female non-carriers had very low lifetime risk for these two outcomes while male non-carriers had lifetime risks intermediate to the female carriers and non-carriers. Female carriers had a lifetime risk of developing EC of 82.4%. Relative risks for developing any HNPCC cancer (carriers relative to non-carriers) were substantially greater for females compared to their male counterparts (Females = 54.8, 95%CI = (4.4, 379.8); Males = 9.7, 95% CI = (0.3, 23.8)). Relative risks for developing CRC at age 70 were substantially greater for females

  16. Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands

    SciTech Connect

    Zhang, Z.P.; Blombaeck, M.; Anvret, M. ); Nyman, D. )

    1993-09-01

    Patients with von Willebrand disease in four families in the Aland Islands, including the original family that was described in 1926 by the Finnish physician von Willebrand, were screened for mutations in the Swedish hot-spot' regions (exons 18, 28, 32, 43, and 45) of the von Willebrand factor gene. One cytosine deletion in exon 18 was detected in each of these families. Linkage analysis and genealogical studies suggest that the deletion present in these four families probably has an origin in common with the mutations in the Swedish patients. Apart from the deletion in exon 18, two close transitions (G [yields] A at S1263 and C [yields] T at P1266) in exon 28 on the same chromosome were identified in one individual who married into the original family and in his two children. The transitions could be due to a recombination between the von Willebrand factor gene and its pseudogene. 24 refs., 3 figs., 3 tabs.

  17. Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.

    PubMed

    Protasova, Maria S; Grigorenko, Anastasia P; Tyazhelova, Tatiana V; Andreeva, Tatiana V; Reshetov, Denis A; Gusev, Fedor E; Laptenko, Alexander E; Kuznetsova, Irina L; Goltsov, Andrey Y; Klyushnikov, Sergey A; Illarioshkin, Sergey N; Rogaev, Evgeny I

    2016-04-01

    X-linked congenital cerebellar ataxia is a heterogeneous nonprogressive neurodevelopmental disorder with onset in early childhood. We searched for a genetic cause of this condition, previously reported in a Buryat pedigree of Mongolian ancestry from southeastern Russia. Using whole-genome sequencing on Illumina HiSeq 2000 platform, we found a missense mutation in the ABCB7 (ABC-binding cassette transporter B7) gene, encoding a mitochondrial transporter, involved in heme synthesis and previously associated with sideroblastic anemia and ataxia. The mutation resulting in a substitution of a highly conserved glycine to serine in position 682 is apparently a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. Moreover, in these affected men we also found the genetic defects in two other genes closely linked to ABCB7 on chromosome X: a deletion of a genomic region harboring the second exon of copper-transporter gene (ATP7A) and a complete deletion of PGAM4 (phosphoglycerate mutase family member 4) retrogene located in the intronic region of the ATP7A gene. Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers. The role of the PGAM4 gene has been previously implicated in human reproduction, but our data indicate that its complete loss does not disrupt male fertility. Our finding links cerebellar pathology to the genetic defect in ABCB7 and ATP7A structural variant inherited as X-linked trait, and further reveals the genetic heterogeneity of X-linked cerebellar disorders. PMID:26242992

  18. A Comprehensive Catalog of Human KRAB-associated Zinc Finger Genes: Insights into the Evolutionary History of a Large Family of Transcriptional Repressors

    SciTech Connect

    Huntley, S; Baggott, D M; Hamilton, A T; Tran-Gyamfi, M; Yang, S; Kim, J; Gordon, L; Branscomb, E; Stubbs, L

    2005-09-30

    Krueppel-type zinc finger (ZNF) motifs are prevalent components of transcription factor proteins in all eukaryotic species. In mammals, most ZNF proteins comprise a single class of transcriptional repressors in which a chromatin interaction domain, called the Krueppel-associated box (KRAB) is attached to a tandem array of DNA-binding zinc-finger motifs. KRAB-ZNF loci are specific to tetrapod vertebrates, but have expanded dramatically in numbers through repeated rounds of segmental duplication to create a gene family with hundreds of members in mammals. To define the full repertoire of human KRAB-ZNF proteins, we searched the human genome for key motifs and used them to construct and manually curate gene models. The resulting KRAB-ZNF gene catalog includes 326 known genes, 243 of which were structurally corrected by manual annotation, and 97 novel KRAB-ZNF genes; this single family therefore comprises 20% of all predicted human transcription factor genes. Many of the genes are alternatively spliced, yielding a total of 743 distinct predicted proteins. Although many human KRAB-ZNF genes are conserved in mammals, at least 136 and potentially more than 200 genes of this type are primate-specific including many recent segmental duplicates. KRAB-ZNF genes are active in a wide variety of human tissues suggesting roles in many key biological processes, but most member genes remain completely uncharacterized. Because of their sheer numbers, wide-ranging tissue-specific expression patterns, and remarkable evolutionary divergence we predict that KRAB-ZNF transcription factors have played critical roles in crafting many aspects of human biology, including both deeply conserved and primate-specific traits.

  19. Sebaceous adenitis in Swedish dogs, a retrospective study of 104 cases

    PubMed Central

    Hernblad Tevell, Elisabeth; Bergvall, Kerstin; Egenvall, Agneta

    2008-01-01

    Background Sebaceous adenitis (SA) is an uncommon, immune mediated skin disease in dogs. The aim was to retrospectively investigate SA in dogs in Sweden with respect to breed, sex and age distribution. A second aim was to retrospectively compare clinical signs in dogs with generalized SA and to estimate the survival after diagnosis in the English springer spaniel, standard poodle and the akita. Methods In total 34 Swedish veterinarians contributed with 104 clinically and histologically verified SA cases. Breed, gender and age at diagnosis were registered for each case. The degree of clinical signs at time for diagnosis and at follow-up and information about treatments, concurrent diseases and euthanasia were recorded for the springer spaniels, standard poodles and akitas using a standardized questionnaire. Results A total of 104 cases of SA were included; most cases were recorded for the springer spaniel (n = 25), standard poodle (n = 21) and the akita (n = 10). These three breeds, together with the lhasa apso and the chow-chow, were the most common when national registry data from the Swedish Board of Agriculture and Swedish Kennel Club were considered. The mean age at diagnosis was 4.8 years. The proportion of males was 61%. When the springer spaniels, standard poodles and the akitas with generalized signs were compared (n = 51), the spaniels showed significantly more severe clinical signs than the poodles at diagnosis regarding alopecia, seborrhoea, pyoderma and the overall severity of clinical signs. At follow-up, the degree of clinical signs for otitis externa and pyoderma differed significantly between the breeds. The estimated median survival time was 42 months. In dogs where data regarding survival was available at the end of the study (n = 44), SA was reported to be the reason for euthanasia in 14 dogs, whereof 7 within 24 months after diagnosis. Conclusion The result of this study implicates that the English springer spaniel is a breed predisposed to SA

  20. Cumulative health risk assessment of 17 perfluoroalkylated and polyfluoroalkylated substances (PFASs) in the Swedish population.

    PubMed

    Borg, Daniel; Lund, Bert-Ove; Lindquist, Nils-Gunnar; Håkansson, Helen

    2013-09-01

    Humans are simultaneously exposed to a multitude of chemicals. Human health risk assessment of chemicals is, however, normally performed on single substances, which may underestimate the total risk, thus bringing a need for reliable methods to assess the risk of combined exposure to multiple chemicals. Per- and polyfluoroalkylated substances (PFASs) is a large group of chemicals that has emerged as global environmental contaminants. In the Swedish population, 17 PFASs have been measured, of which the vast majority lacks human health risk assessment information. The objective of this study was to for the first time perform a cumulative health risk assessment of the 17 PFASs measured in the Swedish population, individually and in combination, using the Hazard Index (HI) approach. Swedish biomonitoring data (blood/serum concentrations of PFASs) were used and two study populations identified: 1) the general population exposed indirectly via the environment and 2) occupationally exposed professional ski waxers. Hazard data used were publicly available toxicity data for hepatotoxicity and reproductive toxicity as well as other more sensitive toxic effects. The results showed that PFASs concentrations were in the low ng/ml serum range in the general population, reaching high ng/ml and low μg/ml serum concentrations in the occupationally exposed. For those congeners lacking toxicity data with regard to hepatotoxicity and reproductive toxicity read-across extrapolations was performed. Other effects at lower dose levels were observed for some well-studied congeners. The risk characterization showed no concern for hepatotoxicity or reproductive toxicity in the general population except in a subpopulation eating PFOS-contaminated fish, illustrating that high local exposure may be of concern. For the occupationally exposed there was concern for hepatotoxicity by PFOA and all congeners in combination as well as for reproductive toxicity by all congeners in combination, thus a

  1. Families in the Military

    MedlinePlus

    ... have led to deployment of large numbers of military personnel (active duty, Reserves, National Guard). As a result ... worries and plans for the future. Let your child know that the family member is making a ...

  2. Shellfish and public health: a Swedish perspective.

    PubMed

    Rehnstam-Holm, Ann-Sofi; Hernroth, Bodil

    2005-03-01

    Bivalves are ancient animals that feed by filtering large volumes of water. In this way, phytoplankton, bacteria and viruses from the water column are greatly concentrated in the mussels. The hazards associated with the consumption of mussels are thus dependent on the occurrence and composition of toxic algae and human microbial pathogens in the areas where shellfish are grown. Diarrheic shellfish toxins have occurred regularly in Sweden during the past 27 years. Peaks of toxins in mussels are mostly recorded from October to December, but the pattern can differ significantly due to location and year, making it hard to predict toxin levels in mussels. With an expansion of aquaculture and a subsequent increase in seafood consumption, better risk management is needed to minimize the effects on humans of algal toxins and human pathogens. New control strategies that have to be implemented are: i) proper site selection of culture installations; ii) regular and cost-efficient monitoring of algae, bacteria and viruses; iii) new indicators for fecal contamination, suitable for the specific locations where shellfish grow; iv) rapid dissemination of information to the industry and public, including risk assessment and advice on how to cope with the situation. PMID:15865311

  3. Victimization, polyvictimization, and health in Swedish adolescents.

    PubMed

    Aho, Nikolas; Proczkowska-Björklund, Marie; Svedin, Carl Göran

    2016-01-01

    The main objective of this article was to study the relationship between the different areas of victimization (eg, sexual victimization) and psychological symptoms, taking into account the full range of victimization domains. The final aim was to contribute further evidence regarding the bias that studies that focus on just one area of victimization may be introduced into our psychological knowledge. The sample included 5,960 second-year high school students in Sweden with a mean age of 17.3 years (range =16-20 years, standard deviation =0.652), of which 49.6% were females and 50.4% males. The Juvenile Victimization Questionnaire and the Trauma Symptom Checklist for Children were used to assess victimization and psychological problems separately. The results show that a majority of adolescents have been victimized, females reported more total events and more sexual victimization and childhood maltreatment, and males were more often victims of conventional crime. The majority of victimization domains as well as the sheer number of events (polyvictimization [PV]) proved to be harmful to adolescent health, affecting females more than males. PV explained part of the health effect and had an impact on its own and in relation to each domain. This suggests the possibility that PV to a large degree explains trauma symptoms. In order to understand the psychological effects of trauma, clinicians and researchers should take into account the whole range of possible types of victimization. PMID:27616895

  4. Victimization, polyvictimization, and health in Swedish adolescents

    PubMed Central

    Aho, Nikolas; Proczkowska-Björklund, Marie; Svedin, Carl Göran

    2016-01-01

    The main objective of this article was to study the relationship between the different areas of victimization (eg, sexual victimization) and psychological symptoms, taking into account the full range of victimization domains. The final aim was to contribute further evidence regarding the bias that studies that focus on just one area of victimization may be introduced into our psychological knowledge. The sample included 5,960 second-year high school students in Sweden with a mean age of 17.3 years (range =16–20 years, standard deviation =0.652), of which 49.6% were females and 50.4% males. The Juvenile Victimization Questionnaire and the Trauma Symptom Checklist for Children were used to assess victimization and psychological problems separately. The results show that a majority of adolescents have been victimized, females reported more total events and more sexual victimization and childhood maltreatment, and males were more often victims of conventional crime. The majority of victimization domains as well as the sheer number of events (polyvictimization [PV]) proved to be harmful to adolescent health, affecting females more than males. PV explained part of the health effect and had an impact on its own and in relation to each domain. This suggests the possibility that PV to a large degree explains trauma symptoms. In order to understand the psychological effects of trauma, clinicians and researchers should take into account the whole range of possible types of victimization. PMID:27616895

  5. IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

    PubMed Central

    Einarsdottir, Elisabet; Koskinen, Lotta LE; Dukes, Emma; Kainu, Kati; Suomela, Sari; Lappalainen, Maarit; Ziberna, Fabiana; Korponay-Szabo, Ilma R; Kurppa, Kalle; Kaukinen, Katri; Ádány, Róza; Pocsai, Zsuzsa; Széles, György; Färkkilä, Martti; Turunen, Ulla; Halme, Leena; Paavola-Sakki, Paulina; Not, Tarcisio; Vatta, Serena; Ventura, Alessandro; Löfberg, Robert; Torkvist, Leif; Bresso, Francesca; Halfvarson, Jonas; Mäki, Markku; Kontula, Kimmo; Saarialho-Kere, Ulpu; Kere, Juha; D'Amato, Mauro; Saavalainen, Päivi

    2009-01-01

    Background Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases. Methods We studied association of single-nucleotide variants in IL23R with IBD in Swedish patients, in both Crohn's disease (CD) and ulcerative colitis (UC) subsets. The same genetic variants were also studied in Finnish patients with psoriasis or celiac disease, and in Hungarian and Italian patients with celiac disease. Results Association of IL23R with IBD was replicated in our Swedish patients, and linkage and association of the IL23R region with psoriasis was found in the Finnish population. The IL23R region was also linked to celiac disease in Finnish families, but no association of IL23R variants with celiac disease was found in the Finnish, Hungarian or Italian samples. Conclusion Our study is the first to demonstrate association of IL23R with CD and UC in Swedish patients with IBD. It is also the first study to report linkage and association of the IL23R region with psoriasis in the Finnish population. Importantly, this is the first report of linkage of the IL23R region to celiac disease, a chronic inflammatory condition in which IL23R has not been previously implicated. PMID:19175939

  6. Identification of an extensive gene cluster among a family of PPOs in Trifolium pratense L. (red clover) using a large insert BAC library

    PubMed Central

    2009-01-01

    Background Polyphenol oxidase (PPO) activity in plants is a trait with potential economic, agricultural and environmental impact. In relation to the food industry, PPO-induced browning causes unacceptable discolouration in fruit and vegetables: from an agriculture perspective, PPO can protect plants against pathogens and environmental stress, improve ruminant growth by increasing nitrogen absorption and decreasing nitrogen loss to the environment through the animal's urine. The high PPO legume, red clover, has a significant economic and environmental role in sustaining low-input organic and conventional farms. Molecular markers for a range of important agricultural traits are being developed for red clover and improved knowledge of PPO genes and their structure will facilitate molecular breeding. Results A bacterial artificial chromosome (BAC) library comprising 26,016 BAC clones with an average 135 Kb insert size, was constructed from Trifolium pratense L. (red clover), a diploid legume with a haploid genome size of 440–637 Mb. Library coverage of 6–8 genome equivalents ensured good representation of genes: the library was screened for polyphenol oxidase (PPO) genes. Two single copy PPO genes, PPO4 and PPO5, were identified to add to a family of three, previously reported, paralogous genes (PPO1–PPO3). Multiple PPO1 copies were identified and characterised revealing a subfamily comprising three variants PPO1/2, PPO1/4 and PPO1/5. Six PPO genes clustered within the genome: four separate BAC clones could be assembled onto a predicted 190–510 Kb single BAC contig. Conclusion A PPO gene family in red clover resides as a cluster of at least 6 genes. Three of these genes have high homology, suggesting a more recent evolutionary event. This PPO cluster covers a longer region of the genome than clusters detected in rice or previously reported in tomato. Full-length coding sequences from PPO4, PPO5, PPO1/5 and PPO1/4 will facilitate functional studies and provide

  7. Antibiotic consumption and antibiotic stewardship in Swedish hospitals

    PubMed Central

    Skoog, Gunilla; Ternhag, Anders; Giske, Christian G.

    2014-01-01

    Background The aim of this paper was to describe and analyze the effect of antibiotic policy changes on antibiotic consumption in Swedish hospitals and to review antibiotic stewardship in Swedish hospitals. Results The main findings were: 1) Antibiotic consumption has significantly increased in Swedish hospitals over the last decade. The consumption of cephalosporins has decreased, whereas that of most other drugs including piperacillin-tazobactam, carbapenems, and penicillinase-sensitive and -resistant penicillins has increased and replaced cephalosporins. 2) Invasive infections caused by ESBL-producing Escherichia coli and Klebsiella pneumoniae have increased, but the proportion of pathogens resistant to third-generation cephalosporins causing invasive infections is still very low in a European and international perspective. Furthermore, the following gaps in knowledge were identified: 1) lack of national, regional, and local data on the incidence of antibiotic resistance among bacteria causing hospital-acquired infections e.g. bloodstream infections and hospital-acquired pneumonia—data on which standard treatment guidelines should be based; 2) lack of data on the incidence of Clostridium difficile infections and the effect of change of antibiotic policies on the incidence of C. difficile infections and infections caused by antibiotic-resistant pathogens; and 3) lack of prospective surveillance programs regarding appropriate antibiotic treatment, including selection of optimal antimicrobial drug regimens, dosage, duration of therapy, and adverse ecological effects such as increases in C. difficile infections and emergence of antibiotic-resistant pathogens. Conclusions Evidence-based actions to improve antibiotic use and to slow down the problem of antibiotic resistance need to be strengthened. The effect of such actions should be analyzed, and standard treatment guidelines should be continuously updated at national, regional, and local levels. PMID:24724823

  8. The Swedish Program has Entered the Site Selection Phase

    SciTech Connect

    Nygards, P.; Hedman, T.; Eng, T.; Olsson, O.

    2003-02-25

    Facilities for intermediate storage of spent fuel and HLW and for final disposal of ILW and LLW together with a system for sea transportation have been in operation in Sweden for more then 15 years. To complete the ''back end system'' the remaining parts are to build facilities for encapsulation and final storage of spent fuel and HLW. The Swedish reference method for final disposal of spent fuel, KBS-3, is to encapsulate the fuel elements in copper canisters and dispose them in a deep geological repository. The Swedish program up to 2001 was focused on the establishment of general acceptance of the reference method for final storage and SKB's selection of candidate sites for a deep geological repository. In the end of year 2000 SKB presented a report as a base for a Government decision about the siting process. This report gave the background for the selection of three candidate sites. It also presented the program for geological surveys of the candidate sites as well as the background for the choice of the method for final disposal of spent nuclear fuel and HLW. In the end of 2001 the Swedish government endorsed the plan for the site selection phase and stated that the KBS-3 design of the repository shall be used as the planning base for the work. Permissions were also granted for the fieldwork from the municipalities of Forsmark and Oskarshamn where the candidate sites are located. Site investigations on these two sites started during 2002. The technical development and demonstration of the KBS 3-method is ongoing at the Dspv Hard Rock Laboratory and the Canister Laboratory. The goal for the coming five years period is to select the site for the repository and apply for licenses to construct and operate the facilities for encapsulation and final storage of spent fuel. The encapsulation plant and the repository are planned to be in operation around year 2015.

  9. Cancer incidence of workers in the Swedish petroleum industry.

    PubMed Central

    Järvholm, B; Mellblom, B; Norrman, R; Nilsson, R; Nordlinder, R

    1997-01-01

    OBJECTIVES: To estimate the risk of cancer due to occupational exposure to petroleum products in the Swedish transport and refinery industries. METHODS: In a retrospective cohort study the cancer incidence in 4128 men and 191 women, who had worked for at least one year in the petroleum industry, was compared with the incidence in the general population. The job titles and employment times for each person were found in personal files in the industries. The men had on average worked in jobs exposed to petroleum for 11.6 years at the end of the observation period. The cases of cancer were identified by record linkage with the Swedish cancer register. RESULTS: In total there were 146 cases of cancer v 157.6 expected (standardised mortality ratio (SMR) 0.93 90% confidence interval (90% CI) 0.80 to 1.1). Operators at refineries had an increased risk of leukaemia (6 cases v 1.7 expected, 90% CI of relative risk (RR) 1.5 to 7.0). Five of the six cases had started to work at the refineries in the 1950s or later. No other significantly increased risk of cancer was found. Distribution workers had a decreased incidence of lung cancer (no cases, 90% CI of RR 0 to 0.4). CONCLUSIONS: Operators at Swedish refineries had an increased risk of leukaemia. A possible cause is exposure to benzene. There was no increased risk of leukaemia in distribution workers. Distribution workers had a decreased risk of lung cancer. PMID:9423584

  10. Antiretroviral treatment of human immunodeficiency virus infection: Swedish recommendations.

    PubMed

    Sandström, Eric; Uhnoo, Ingrid; Ahlqvist-Rastad, Jane; Bratt, Göran; Berglund, Torsten; Gisslén, Magnus; Lindbäck, Stefan; Morfeldt, Linda; Ståhle, Lars; Sönnerborg, Anders

    2003-01-01

    The Swedish guidelines (SwG) for treatment of human immunodeficiency virus (HIV) infection have several important roles. A major task involves the promotion of a uniformly high standard of care in all HIV treatment clinics in Sweden and the identification of strengths, weaknesses and relevance of recent research findings. CD4+ T-cell counts < 200 cells/microl are clear indications for the initiation of treatment, whereas high viral loads serve as an indication for increased vigilance rather than a criterion for therapy. It is recommended that the first regimen consists of 2 nucleoside reverse transcriptase inhibitors in combination with 1 protease inhibitor or 1 non-nucleoside reverse transcriptase inhibitor. The definition of treatment failure is rigorous. Treatment change should be considered if the viral load has not fallen by at least 1.5 log in 4 weeks or is undetectable within 3-4 months. Resistance testing is endorsed at primary infection, in the event of treatment failure and in pregnant women. Interaction with experts in HIV resistance testing is emphasized. Therapeutic drug monitoring is advocated. Patients with treatment failure should be handled individually and the decision on therapeutic strategy should be based on treatment history, resistance testing and other clinical facts. The SwG do not give recommendations for some important issues such as prolonged drug holidays and preferences in initial treatment regimens. More scientific data are likely to be available soon and the SwG will be refined accordingly. The present guidelines are translated from Swedish; they are published on the Medical Products Agency (MPA) and Swedish Reference Group for Antiviral Therapy (RAV) websites (www.mpa.se and www.rav.nu.se), including 7 separate papers based on a thorough literature search. A complete reference list is available on request from the MPA. PMID:12751710

  11. First report from the Swedish National Forensic Psychiatric Register (SNFPR).

    PubMed

    Degl' Innocenti, Alessio; Hassing, Linda B; Lindqvist, Ann-Sophie; Andersson, Hans; Eriksson, Lars; Hanson, Frances Hagelbäck; Möller, Nina; Nilsson, Thomas; Hofvander, Björn; Anckarsäter, Henrik

    2014-01-01

    To the best of our knowledge, the present register is the only nationwide forensic psychiatric patient register in the world. The aim of this article is to describe the content of the Swedish National Forensic Psychiatric Register (SNFPR) for Swedish forensic patients for the year 2010. The subjects are individuals who, in connection with prosecution due to criminal acts, have been sentenced to compulsory forensic psychiatric treatment in Sweden. The results show that in 2010, 1476 Swedish forensic patients were assessed in the SNFPR; 1251 (85%) were males and 225 (15%) were females. Almost 60% of the patients had a diagnosis of schizophrenia, with a significantly higher frequency among males than females. As many as 70% of the patients had a previous history of outpatient psychiatric treatment before becoming a forensic psychiatric patient, with a mean age at first contact with psychiatric care of about 20 years old for both sexes. More than 63% of the patients had a history of addiction, with a higher proportion of males than females. Furthermore, as many as 38% of all patients committed crimes while under the influence of alcohol and/or illicit drugs. This was more often the case for men than for women. Both male and female patients were primarily sentenced for crimes related to life and death (e.g., murder, assault). However, there were more females than males in treatment for general dangerous crimes (e.g., arson), whereas men were more often prosecuted for crimes related to sex. In 2010, as many as 70% of all forensic patients in Sweden had a prior sentence for a criminal act, and males were prosecuted significantly more often than females. The most commonly prescribed pharmaceuticals for both genders were antipsychotics, although more women than men were prescribed other pharmaceuticals, such as antidepressants, antiepileptics, and anxiolytics. The result from the present study might give clinicians an opportunity to reflect upon and challenge their

  12. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

    PubMed

    Khan, Muzammil A; Rupp, Verena M; Orpinell, Meritxell; Hussain, Muhammad S; Altmüller, Janine; Steinmetz, Michel O; Enzinger, Christian; Thiele, Holger; Höhne, Wolfgang; Nürnberg, Gudrun; Baig, Shahid M; Ansar, Muhammad; Nürnberg, Peter; Vincent, John B; Speicher, Michael R; Gönczy, Pierre; Windpassinger, Christian

    2014-11-15

    Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By homozygosity mapping including three affected individuals from a consanguineous MCPH family from Pakistan, we delineated a critical region of 18.53 Mb on Chromosome 1p21.3-1p13.1. This region contains the gene encoding HsSAS-6, a centrosomal protein primordial for seeding the formation of new centrioles during the cell cycle. Both next-generation and Sanger sequencing revealed a homozygous c.185T>C missense mutation in the HsSAS-6 gene, resulting in a p.Ile62Thr substitution within a highly conserved region of the PISA domain of HsSAS-6. This variant is neither present in any single-nucleotide polymorphism or exome sequencing databases nor in a Pakistani control cohort. Experiments in tissue culture cells revealed that the Ile62Thr mutant of HsSAS-6 is substantially less efficient than the wild-type protein in sustaining centriole formation. Together, our findings demonstrate a dramatic impact of the mutation p.Ile62Thr on HsSAS-6 function and add this component to the list of genes mutated in primary microcephaly. PMID:24951542

  13. Keeping It Local: Evidence for Positive Selection in Swedish Arabidopsis thaliana

    PubMed Central

    Huber, Christian D.; Nordborg, Magnus; Hermisson, Joachim; Hellmann, Ines

    2014-01-01

    Detecting positive selection in species with heterogeneous habitats and complex demography is notoriously difficult and prone to statistical biases. The model plant Arabidopsis thaliana exemplifies this problem: In spite of the large amounts of data, little evidence for classic selective sweeps has been found. Moreover, many aspects of the demography are unclear, which makes it hard to judge whether the few signals are indeed signs of selection, or false positives caused by demographic events. Here, we focus on Swedish A. thaliana and we find that the demography can be approximated as a two-population model. Careful analysis of the data shows that such a two island model is characterized by a very old split time that significantly predates the last glacial maximum followed by secondary contact with strong migration. We evaluate selection based on this demography and find that this secondary contact model strongly affects the power to detect sweeps. Moreover, it affects the power differently for northern Sweden (more false positives) as compared with southern Sweden (more false negatives). However, even when the demographic history is accounted for, sweep signals in northern Sweden are stronger than in southern Sweden, with little or no positional overlap. Further simulations including the complex demography and selection confirm that this is not compatible with global selection acting on both populations, and thus can be taken as evidence for local selection within subpopulations of Swedish A. thaliana. This study demonstrates the necessity of combining demographic analyses and sweep scans for the detection of selection, particularly when selection acts predominantly local. PMID:25158800

  14. Environmental contamination by vancomycin resistant enterococci (VRE) in Swedish broiler production

    PubMed Central

    2009-01-01

    Background Vancomycin resistant enterococci are a frequent cause of nosocomial infections and their presence among farm animals is unwanted. Using media supplemented with vancomycin an increase in the proportion of samples from Swedish broilers positive for vancomycin resistant enterococci has been detected. The situation at farm level is largely unknown. The aims of this study were to obtain baseline knowledge about environmental contamination with vancomycin resistant enterococci in Swedish broiler production and the association between environmental contamination and colonisation of birds. Methods Environmental samples were taken before, during and after a batch of broilers at three farms. Samples were cultured both qualitatively and semi-quantitatively for vancomycin resistant enterococci. In addition, caecal content from birds in the batch following at each farm was cultured qualitatively for vancomycin resistant enterococci. Results The number of samples positive for vancomycin resistant enterococci varied among the farms. Also the amount of vancomycin resistant enterococci in the positive samples and the proportion of caecal samples containing vancomycin resistant enterococci varied among the farms. Still, the temporal changes in environmental contamination followed a similar pattern in all farms. Conclusion Vancomycin resistant enterococci persist in the compartments even after cleaning and the temporal changes in environmental contamination were similar among farms. There were however differences among farms regarding both degree of contamination and proportion of birds colonized with vancomycin resistant enterococci. The proportion of colonized birds and the amount of vancomycin resistant enterococci in the compartments seems to be associated. If the factor(s) causing the differences among farms could be identified, it might be possible to reduce both the risk for colonisation by vancomycin resistant enterococci of the subsequent flock and the risk for

  15. Measuring strategies for learning regulation in medical education: Scale reliability and dimensionality in a Swedish sample

    PubMed Central

    2012-01-01

    Background The degree of learners’ self-regulated learning and dependence on external regulation influence learning processes in higher education. These regulation strategies are commonly measured by questionnaires developed in other settings than in which they are being used, thereby requiring renewed validation. The aim of this study was to psychometrically evaluate the learning regulation strategy scales from the Inventory of Learning Styles with Swedish medical students (N = 206). Methods The regulation scales were evaluated regarding their reliability, scale dimensionality and interrelations. The primary evaluation focused on dimensionality and was performed with Mokken scale analysis. To assist future scale refinement, additional item analysis, such as item-to-scale correlations, was performed. Results Scale scores in the Swedish sample displayed good reliability in relation to published results: Cronbach’s alpha: 0.82, 0.72, and 0.65 for self-regulation, external regulation and lack of regulation scales respectively. The dimensionalities in scales were adequate for self-regulation and its subscales, whereas external regulation and lack of regulation displayed less unidimensionality. The established theoretical scales were largely replicated in the exploratory analysis. The item analysis identified two items that contributed little to their respective scales. Discussion The results indicate that these scales have an adequate capacity for detecting the three theoretically proposed learning regulation strategies in the medical education sample. Further construct validity should be sought by interpreting scale scores in relation to specific learning activities. Using established scales for measuring students’ regulation strategies enables a broad empirical base for increasing knowledge on regulation strategies in relation to different disciplinary settings and contributes to theoretical development. PMID:22894604

  16. Impacts of foreign direct investment on efficiency in Swedish manufacturing.

    PubMed

    Svedin, Dick; Stage, Jesper

    2016-01-01

    A number of studies have found that foreign direct investment (FDI) can have positive impacts on productivity. However, while FDI has clearly positive impacts on technology transfers, its effects on resource use within firms is less clear and, in principle, efficiency losses might offset some of the productivity gains associated with improved technologies. In this paper, we study the impacts of FDI on efficiency in Swedish manufacturing. We find that foreign ownership has positive impacts on efficiency, supporting the earlier findings on productivity. PMID:27247909

  17. The Swedish Regional Climate Modelling Programme, SWECLIM: a review.

    PubMed

    Rummukainen, Markku; Bergström, Sten; Persson, Gunn; Rodhe, Johan; Tjernström, Michael

    2004-06-01

    The Swedish Regional Climate Modelling Programme, SWECLIM, was a 6.5-year national research network for regional climate modeling, regional climate change projections and hydrological impact assessment and information to a wide range of stakeholders. Most of the program activities focussed on the regional climate system of Northern Europe. This led to the establishment of an advanced, coupled atmosphere-ocean-hydrology regional climate model system, a suite of regional climate change projections and progress on relevant data and process studies. These were, in turn, used for information and educational purposes, as a starting point for impact analyses on different societal sectors and provided contributions also to international climate research. PMID:15264594

  18. Putting the "family" back into family therapy.

    PubMed

    Breunlin, Douglas C; Jacobsen, Elizabeth

    2014-09-01

    In this article, we examine the field of family therapy by drawing a distinction between two forms of practice: Whole Family Therapy (WFT), defined as treating the whole family, and Relational Family Therapy (RFT), defined as working with a subsystem of the family or an individual while retaining a systemic lens. Our thesis is that the practice of WFT has been in decline for some time and steps must be taken to keep it from becoming a defunct practice. We consider the trajectory of WFT and RFT throughout the development of family therapy through reference to the people, the literature, training, and practice patterns associated with family therapy. We remind the reader of the many benefits of WFT and suggest that today WFT is likely to be practiced in conjunction with RFT and individual therapy. Since training of family therapists today is largely located in degree-granting programs, we identify constraints to including WFT in such programs. We conclude by offering suggestions that can enhance a program's ability to train students in WFT. PMID:24948531

  19. Family Privilege

    ERIC Educational Resources Information Center

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  20. English Proficiency and Attitude Formation in a Merged Corporation with a Swedish-English Profile

    ERIC Educational Resources Information Center

    Mobarg, Mats

    2012-01-01

    This study investigates the relationship between proficiency in English and language-related attitudes among Swedish professionals at the English-speaking AstraZeneca R&D site in Molndal, Sweden. AstraZeneca is the result of a merger between a Swedish and a British pharmaceutical company, and the aim of the study is to see to what extent their…

  1. Gender and Technology in Free Play in Swedish Early Childhood Education

    ERIC Educational Resources Information Center

    Hallström, Jonas; Elvstrand, Helene; Hellberg, Kristina

    2015-01-01

    In the new Swedish curriculum for the preschool (2010) technology education is emphasized as one of the most significant pedagogical areas to work with. The aim of this article is to investigate how girls and boys explore and learn technology as well as how their teachers frame this in free play in two Swedish preschools. The study is inspired by…

  2. First Language Paradigms in Conflict: Hidden Dialogue in Swedish Curricula 1962-2011

    ERIC Educational Resources Information Center

    Hellberg, Staffan

    2012-01-01

    Seven successive curricula for Swedish in the Swedish primary school are investigated using a linguistic method that traces its origin to the Russian literary theorist, Michail Bakhtin. The amount of dialogicity, viewed as the room given to different paradigms to argue against each other, is shown to decrease from the earlier curricula to the…

  3. Introducing National Tests in Swedish Primary Education: Implications for Test Anxiety

    ERIC Educational Resources Information Center

    Nyroos, Mikaela; Wiklund-Hornqvist, Carola

    2011-01-01

    Introduction: The Swedish government has decided to introduce national tests in primary education. Swedish pupils in general have few tests and a recognised possible adverse effect of testing is test anxiety among pupils, which may have a negative impact on examination performance. However, there has been little research on effects of testing on…

  4. From Formulation to Realisation: The Process of Swedish Reform in Advanced Vocational Education

    ERIC Educational Resources Information Center

    Lindell, Mats

    2006-01-01

    Purpose: This study aims to consider the complexities of planning and implementation of a reform in the Swedish system of higher vocational education and training (VET). The study object of this article is the Swedish reform with advanced vocational education (AVE). The two main questions the study aims to address are: "What are the main driving…

  5. Swedish or English? Migrants' Experiences of the Exchangeability of Language Resources

    ERIC Educational Resources Information Center

    Henry, Alastair

    2016-01-01

    Patterns of transmigration emerging as a consequence of globalization are creating new and complex markets for communicative resources in which languages and language varieties are differently valued. In a Swedish context, where lingua franca English can facilitate communication but where monolingual norms prevail and Swedish is positioned as the…

  6. Same Source, Different Outcomes: A Study of Swedish Influence on the Acquisition of English in Finland

    ERIC Educational Resources Information Center

    Odlin, Terence; Jarvis, Scott

    2004-01-01

    With a Finnish-speaking majority and a Swedish-speaking minority, Finland offers a striking contrast in the kinds of cross-linguistic influence that can occur in the acquisition of English in a multilingual setting. While much previous research has looked at the differences between Finnish and Swedish influences, our study compares Swedish…

  7. The Swedish Version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric Properties

    ERIC Educational Resources Information Center

    Nygren, Gudrun; Hagberg, Bibbi; Billstedt, Eva; Skoglund, Asa; Gillberg, Christopher; Johansson, Maria

    2009-01-01

    Psychometric properties of the Diagnostic Interview for Social and Communication Disorders schedule (DISCO) have only been studied in the UK. The authorised Swedish translation of the tenth version of the DISCO (DISCO-10) was used in interviews with close relatives of 91 Swedish patients referred for neuropsychiatrical assessment. Validity…

  8. Cultivating Swedishness? Examples of Imagined Kinship during the First Half of the 20th Century

    ERIC Educational Resources Information Center

    Thomasson, Adrian

    2015-01-01

    Different representations of "Swedishness," as expressions of altered kinds of imagined kinship in the Swedish educational system during the first half of the 20th century, are discussed. It is argued that even though the curriculum changed, from a more religious one focusing on fostering loyalty and moral commitment to "God, the…

  9. Teachers' Access to and Use of ICT: An Indicator of Growing Inequity in Swedish Schools

    ERIC Educational Resources Information Center

    Thunman, Elin; Persson, Marcus

    2013-01-01

    In light of how the knowledge society may give rise to new forms of inequity in schools, the purpose of this article is to examine the stratification of Swedish schoolteachers' access to and use of ICT. The empirical data consist of a nationwide survey conducted in 2010, involving 6000 Swedish teachers in all grades (except pre-school and…

  10. Class-Size Effects on Adolescents' Mental Health and Well-Being in Swedish Schools

    ERIC Educational Resources Information Center

    Jakobsson, Niklas; Persson, Mattias; Svensson, Mikael

    2013-01-01

    This paper analyzes whether class size has an effect on the prevalence of mental health problems and well-being among adolescents in Swedish schools. We use cross-sectional data collected in year 2008 covering 2755 Swedish adolescents in ninth grade from 40 schools and 159 classes. We utilize different econometric approaches to address potential…

  11. The Psychometric Properties of the Swedish Version of the EB Process Assessment Scale

    ERIC Educational Resources Information Center

    Nyström, Siv; Åhsberg, Elizabeth

    2016-01-01

    Objective: This study examines whether the psychometric properties of the short version of the Evidence-Based Practice Process Assessment Scale (EBPPAS) remain satisfactory when translated and transferred to the context of Swedish welfare services. Method: The Swedish version of EBPPAS was tested on a sample of community-based professionals in…

  12. The Swedish Principal: Leadership Style, Decision-Making Style, and Motivation Profile

    ERIC Educational Resources Information Center

    Hansson, Per H.; Andersen, Jon Aarum

    2007-01-01

    The Swedish schools have been under pressure for change for several decades. How leaders behave can be of vital importance in times of change. The principal is responsible for both the educational program and for the school budget. Two hundred Swedish principals (male and female) responded to questionnaires concerning their leadership style,…

  13. How Are Notions of Childcare Similar or Different among American, Chinese, Japanese and Swedish Teachers?

    ERIC Educational Resources Information Center

    Izumi-Taylor, Satomi; Lee, Yu-Yuan; Franceschini, Louis

    2011-01-01

    The purpose of this study was to examine similarities and differences in the perceptions of childcare among American, Chinese, Japanese and Swedish early childhood teachers. Participants consisted of 78 American teachers, 156 Chinese teachers, 158 Japanese teachers, and 157 Swedish teachers. The results of quantitative analysis revealed that these…

  14. International Education and Reflection: Transition of Swedish and American Nursing Students to Authenticity.

    ERIC Educational Resources Information Center

    Lepp, Margret; Zorn, CeCelia R.; Duffy, Patricia R.; Dickson, Rana J.

    2003-01-01

    A nursing course connected U.S. and Swedish sites via interactive videoconferencing and used reflective methods (journaling, drama, photo language) and off-air group discussion. Evaluation by five Swedish and seven U.S. students suggested how reflection moved students toward greater authenticity and professionalism in nursing practice. (Contains…

  15. Further Education and Training in Swedish Working Life: A Discussion of Trends and Issues.

    ERIC Educational Resources Information Center

    Tuijnman, Albert

    Written mainly for a non-Swedish audience, this document has a twofold purpose: (1) to examine how and to what extent the further education and training of the labor force is both presently and prospectively dealt with in collective bargaining agreements and other workplace negotiation processes in the Swedish labor market; and (2) to examine the…

  16. Between Control and Resistance: Planning and Evaluation Texts in the Swedish Preschool

    ERIC Educational Resources Information Center

    Lofdahl, Annica; Perez Prieto, Hector

    2009-01-01

    This article contains results from a study based on locally produced planning and evaluation texts from 10 preschool settings in a Swedish middle-sized town. The texts were mainly from 1999 to 2005, a period during which Swedish preschools were implementing their first curriculum and were subject to several changes including decentralisation,…

  17. A Critical Mapping of Practice-Based Research as Evidenced by Swedish Architectural Theses

    ERIC Educational Resources Information Center

    Buchler, Daniela; Biggs, Michael A. R.; Stahl, Lars-Henrik

    2011-01-01

    This article presents an investigation that was funded by the Swedish Institute into the role of creative practice in architectural research as evidenced in Swedish doctoral theses. The sample was mapped and analysed in terms of clusters of interest, approaches, cultures of knowledge and uses of creative practice. This allowed the identification…

  18. Democracy Lessons in Market-Oriented Schools: The Case of Swedish Upper Secondary Education

    ERIC Educational Resources Information Center

    Lundahl, Lisbeth; Olson, Maria

    2013-01-01

    Based on recent ethnographic research, this article explores young people's opportunities of formal and informal democracy learning and expressions of such learning in the highly market-influenced Swedish upper secondary education. With its ambitious democracy-fostering goals and far-reaching marketisation, Swedish education constitutes an…

  19. Entrepreneurial Learning in Swedish Preschools: Possibilities for and Constraints on Children's Active Participation

    ERIC Educational Resources Information Center

    Insulander, Eva; Ehrlin, Anna; Sandberg, Anette

    2015-01-01

    The website of the Swedish National Agency for Education states that preschools are to promote entrepreneurial learning. Many Swedish preschools, therefore, have started to work consciously with entrepreneurial learning as a way of fostering pupils' creativity and ability to make their own decisions. This article investigates whether and how…

  20. The Swedish Verb "Lata" "Let" from a Synchronic and Diachronic Perspective

    ERIC Educational Resources Information Center

    Rawoens, Gudrun

    2013-01-01

    This paper aims at highlighting the syntactic and semantic variation of the Swedish verb "lata" "let" from both a synchronic and diachronic point of view. On the basis of corpus data containing Old and Modern Swedish texts from the 13th to the 19th centuries, the syntactic and semantic development of the verb is investigated within the framework…

  1. Secular Trends in Cognitive Test Performance: Swedish Conscript Data 1970-1993

    ERIC Educational Resources Information Center

    Ronnlund, Michael; Carlstedt, Berit; Blomstedt, Yulia; Nilsson, Lars-Goran; Weinehall, Lars

    2013-01-01

    We investigated time-related patterns in levels of cognitive performance during the period from 1970 to 1993 based on data from Swedish draft boards. The conscripts, including more than a million 18-19-year old men, had taken one of two versions of the Swedish enlistment battery (SEB67; 1970-1979 or SEB80; 1980-1993), each composed of four…

  2. Better Homes and Families: Housing Markets and Young Couple Stability in Sweden

    ERIC Educational Resources Information Center

    Lauster, Nathanael T.

    2008-01-01

    I model the relationship between aspects of the housing market influenced by housing policy and couple stability for cohabiting couples in Sweden. Using data on 3,851 cohabiting couples obtained from the Swedish Family Survey of 1992, I examine the effects of housing market characteristics on couple outcomes. I focus on three housing variables,…

  3. Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

    PubMed Central

    Li, Xuefu; Zhong, Bomeng; Han, Weitian; Zhao, Ning; Liu, Wei; Sui, Yu; Wang, Yawen; Lu, Yongping; Wang, Hong; Li, Jianxin; Jiang, Miao

    2015-01-01

    Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the limbs and at least ten different DAs have been described to date. DAs are mostly described as autosomal dominant disorders with variable expressivity and incomplete penetrance, but recently autosomal recessive pattern was reported in distal arthrogryposis type 5D. Mutations in the contractile genes are found in about 50% of all DA patients. Of these genes, mutations in the gene encoding myosin binding protein C slow MYBPC1 were recently identified in two families with distal arthrogryposis type 1B. Here, we described two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity. Some unique overextension contractures of the lower limbs and some distinctive facial features were present in our DA2 pedigrees. We performed follow-up DNA sequencing after linkage mapping and first identified two novel MYBPC1 mutations (c.1075G>A [p.E359K] and c.956C>T [p.P319L]) responsible for these Chinese DA2 families of which one introduced by germline mosacism. Each mutation was found to cosegregate with the DA2 phenotype in each family but not in population controls. Both substitutions occur within C2 immunoglobulin domain, which together with C1 and the M motif constitute the binding site for the S2 subfragment of myosin. Our results expand the phenotypic spectrum of MYBPC1-related arthrogryposis multiplex congenita (AMC). We also proposed the possible molecular mechanisms that may underlie the pathogenesis of DA2 myopathy associated with these two substitutions in MYBPC1. PMID:25679999

  4. A novel type of class I gene organization in vertebrates: a large family of non-MHC-linked class I genes is expressed at the RNA level in the amphibian Xenopus.

    PubMed Central

    Flajnik, M F; Kasahara, M; Shum, B P; Salter-Cid, L; Taylor, E; Du Pasquier, L

    1993-01-01

    A Xenopus class I cDNA clone, isolated from a cDNA expression library using antisera, is a member of a large family of non-classical class I genes (class Ib) composed of at least nine subfamilies, all of which are expressed at the RNA level. The subfamilies are well conserved in their immunoglobulin-like alpha 3 domains, but their peptide-binding regions (PBRs) and cytoplasmic domains are very divergent. In contrast to the great allelic diversity found in the PBR of classical class I genes, the alleles of one of the Xenopus non-classical subfamilies are extremely well conserved in all regions. Several of the invariant amino acids essential for the anchoring of peptides in the classical class I groove are not conserved in some subfamilies, but the class Ib genes are nevertheless more closely related in the PBR to classical and non-classical genes linked to the MHC in mammals and birds than to any other described class I genes like CD1 and the neonatal rat intestinal Fc receptor. Comparison with the Xenopus MHC-linked class Ia protein indicate that amino acids presumed to interact with beta 2-microglobulin are identical or conservatively changed in the two major class I families. Genomic analyses of Xenopus species suggest that the classical and non-classical families diverged from a common ancestor before the emergence of the genus Xenopus over 100 million years ago; all of the non-classical genes appear to be linked on a chromosome distinct from the one harboring the MHC. We hypothesize that this class Ib gene family is under very different selection pressures from the classical MHC genes, and that each subfamily may have evolved for a particular function. Images PMID:8223448

  5. Aspects of Swedish Morphology and Semantics from the Perspective of Mono- and Cross-Language Information Retrieval.

    ERIC Educational Resources Information Center

    Hedlund, Turid; Pirkola, Ari; Jarvelin, Kalervo

    2001-01-01

    Analyzes features of the Swedish language from the viewpoint of mono-and cross-language information retrieval. Results of a comparative study that tested the degree of lexical ambiguity in Swedish, Finnish, and English suggest that part-of-speech tagging might be useful in Swedish information retrieval due to the high frequency of homographic…

  6. Obsessive–compulsive symptoms in a large population-based twin-family sample are predicted by clinically based polygenic scores and by genome-wide SNPs

    PubMed Central

    den Braber, A; Zilhão, N R; Fedko, I O; Hottenga, J-J; Pool, R; Smit, D J A; Cath, D C; Boomsma, D I

    2016-01-01

    Variation in obsessive–compulsive symptoms (OCS) has a heritable basis, with genetic association studies starting to yield the first suggestive findings. We contribute to insights into the genetic basis of OCS by performing an extensive series of genetic analyses in a homogeneous, population-based sample from the Netherlands. First, phenotypic and genetic longitudinal correlations over a 6-year period were estimated by modeling OCS data from twins and siblings. Second, polygenic risk scores (PRS) for 6931 subjects with genotype and OCS data were calculated based on meta-analysis results from IOCDF-GC, to investigate their predictive value. Third, the contribution of measured single nucleotide polymorphisms (SNPs) to the heritability was estimated using random-effects modeling. Last, we performed an exploratory genome-wide association study (GWAS) of OCS, testing for SNP- and for gene-based associations. Stability in OCS (test–retest correlation 0.63) was mainly explained by genetic stability. The PRS based on clinical samples predicted OCS in our population-based twin-family sample. SNP-based heritability was estimated at 14%. GWAS revealed one SNP (rs8100480), located within the MEF2BNB gene, associated with OCS (P=2.56 × 10−8). Additional gene-based testing resulted in four significantly associated genes, which are located in the same chromosomal region on chromosome 19p13.11: MEF2BNB, RFXANK, MEF2BNB-MEF2B and MEF2B. Thus, common genetic variants explained a significant proportion of OCS trait variation. Genes significantly associated with OCS are expressed in the brain and involved in development and control of immune system functions (RFXANK) and regulation of gene expression of muscle-specific genes (MEF2BNB). MEF2BNB also showed a suggestive association with OCD in an independent case–control study, suggesting a role for this gene in the development of OCS. PMID:26859814

  7. RNA Interference Suppression of Genes in Glycosyl Transferase Families 43 and 47 in Wheat Starchy Endosperm Causes Large Decreases in Arabinoxylan Content1[C][W][OPEN

    PubMed Central

    Lovegrove, Alison; Wilkinson, Mark D.; Freeman, Jackie; Pellny, Till K.; Tosi, Paola; Saulnier, Luc; Shewry, Peter R.; Mitchell, Rowan A.C.

    2013-01-01

    The cell walls of wheat (Triticum aestivum) starchy endosperm are dominated by arabinoxylan (AX), accounting for 65% to 70% of the polysaccharide content. Genes within two glycosyl transferase (GT) families, GT43 (IRREGULAR XYLEM9 [IRX9] and IRX14) and GT47 (IRX10), have previously been shown to be involved in the synthesis of the xylan backbone in Arabidopsis, and close homologs of these have been implicated in the synthesis of xylan in other species. Here, homologs of IRX10 TaGT47_2 and IRX9 TaGT43_2, which are highly expressed in wheat starchy endosperm cells, were suppressed by RNA interference (RNAi) constructs driven by a starchy endosperm-specific promoter. The total amount of AX was decreased by 40% to 50% and the degree of arabinosylation was increased by 25% to 30% in transgenic lines carrying either of the transgenes. The cell walls of starchy endosperm in sections of grain from TaGT43_2 and TaGT47_2 RNAi transgenics showed decreased immunolabeling for xylan and arabinoxylan epitopes and approximately 50% decreased cell wall thickness compared with controls. The proportion of AX that was water soluble was not significantly affected, but average AX polymer chain length was decreased in both TaGT43_2 and TaGT47_2 RNAi transgenics. However, the long AX chains seen in controls were absent in TaGT43_2 RNAi transgenics but still present in TaGT47_2 RNAi transgenics. The results support an emerging picture of IRX9-like and IRX10-like proteins acting as key components in the xylan synthesis machinery in both dicots and grasses. Since AX is the main component of dietary fiber in wheat foods, the TaGT43_2 and TaGT47_2 genes are of major importance to human nutrition. PMID:23878080

  8. Obsessive-compulsive symptoms in a large population-based twin-family sample are predicted by clinically based polygenic scores and by genome-wide SNPs.

    PubMed

    den Braber, A; Zilhão, N R; Fedko, I O; Hottenga, J-J; Pool, R; Smit, D J A; Cath, D C; Boomsma, D I

    2016-01-01

    Variation in obsessive-compulsive symptoms (OCS) has a heritable basis, with genetic association studies starting to yield the first suggestive findings. We contribute to insights into the genetic basis of OCS by performing an extensive series of genetic analyses in a homogeneous, population-based sample from the Netherlands. First, phenotypic and genetic longitudinal correlations over a 6-year period were estimated by modeling OCS data from twins and siblings. Second, polygenic risk scores (PRS) for 6931 subjects with genotype and OCS data were calculated based on meta-analysis results from IOCDF-GC, to investigate their predictive value. Third, the contribution of measured single nucleotide polymorphisms (SNPs) to the heritability was estimated using random-effects modeling. Last, we performed an exploratory genome-wide association study (GWAS) of OCS, testing for SNP- and for gene-based associations. Stability in OCS (test-retest correlation 0.63) was mainly explained by genetic stability. The PRS based on clinical samples predicted OCS in our population-based twin-family sample. SNP-based heritability was estimated at 14%. GWAS revealed one SNP (rs8100480), located within the MEF2BNB gene, associated with OCS (P=2.56 × 10(-8)). Additional gene-based testing resulted in four significantly associated genes, which are located in the same chromosomal region on chromosome 19p13.11: MEF2BNB, RFXANK, MEF2BNB-MEF2B and MEF2B. Thus, common genetic variants explained a significant proportion of OCS trait variation. Genes significantly associated with OCS are expressed in the brain and involved in development and control of immune system functions (RFXANK) and regulation of gene expression of muscle-specific genes (MEF2BNB). MEF2BNB also showed a suggestive association with OCD in an independent case-control study, suggesting a role for this gene in the development of OCS. PMID:26859814

  9. Sugar beet contains a large CONSTANS-LIKE gene family including a CO homologue that is independent of the early-bolting (B) gene locus

    PubMed Central

    Chia, T. Y. P.; Müller, A.; Jung, C.; Mutasa-Göttgens, E. S.

    2008-01-01

    Floral transition in the obligate long-day (LD) plant sugar beet (Beta vulgaris ssp. vulgaris) is tightly linked to the B gene, a dominant early-bolting quantitative trait locus, the expression of which is positively regulated by LD photoperiod. Thus, photoperiod regulators like CONSTANS (CO) and CONSTANS-LIKE (COL) genes identified in many LD and short-day (SD)-responsive plants have long been considered constituents and/or candidates for the B gene. Until now, the photoperiod response pathway of sugar beet (a Caryophyllid), diverged from the Rosids and Asterids has not been identified. Here, evidence supporting the existence of a COL gene family is provided and the presence of Group I, II, and III COL genes in sugar beet, as characterized by different zinc-finger (B-box) and CCT (CO, CO-like, TOC) domains is demonstrated. BvCOL1 is identified as a close-homologue of Group 1a (AtCO, AtCOL1, AtCOL2) COL genes, hence a good candidate for flowering time control and it is shown that it maps to chromosome II but distant from the B gene locus. The late-flowering phenotype of A. thaliana co-2 mutants was rescued by over-expression of BvCOL1 thereby suggesting functional equivalence with AtCO, and it is shown that BvCOL1 interacts appropriately with the endogenous downstream genes, AtFT and AtSOC1 in the transgenic plants. Curiously, BvCOL1 has a dawn-phased diurnal pattern of transcription, mimicking that of AtCOL1 and AtCOL2 while contrasting with AtCO. Taken together, these data suggest that BvCOL1 plays an important role in the photoperiod response of sugar beet. PMID:18495636

  10. October 29-31, 2003 geomagnetic storm: geomagnetically induced currents and their relation to problems in the Swedish high-voltage power transmission system

    NASA Astrophysics Data System (ADS)

    Pulkkinen, A. A.; Lindahl, S.; Viljanen, A.; Pirjola, R.

    2004-12-01

    In October 30, 2003, an ongoing geomagnetic superstorm knocked down a part of the high-voltage power transmission system in southern Sweden operated by the Sydkraft company. The blackout lasted for an hour and left about 50000 people without electricity. The incident was probably the most severe GIC failure observed since the well-known March 1989 Québec blackout and thus the problems in a Swedish system deserve a closer look. The geophysical background and the impacts on the Swedish high-voltage power transmission system of the October 29-31, 2003 geomagnetic storm are described in the study at hand. It was seen that athough no serious problems in North-America have been reported, the "three-phase" storm produced exceptionally large geomagnetic activity at the Fennoscandian auroral region. It was also seen that GIC modeled for southern Sweden region using very simplistic methods were able to explain the times of the failures in the Swedish system thus confirming the sources of experienced problems and adding also GIC to the long list of causes of technological impacts of the storm. Though the great diversity of the GIC drivers are addresses in the study, the problems in operating the Swedish system during the exceptionally intense storm of October 29-31, 2003 are attributed geophysically to substorms, SSCs and enhanced ionospheric convection all of which were creating large and complex geoelectric fields capable of driving large GIC. Based on the basic two-fold nature of the failure-related geoelectric field characteristics, a semi-deterministic approach for forecasting GIC-related geomagnetic activity in which average overall activity is supplemented with statistical estimations of the amplitudes of GIC fluctuations is suggested.

  11. Cancer, Families, and Family Counselors.

    ERIC Educational Resources Information Center

    Duffy, Maureen; Gillig, Scott

    2003-01-01

    Examines the role of the family counselor in working with cancer patients and their families. Suggests ways in which the family counselor can work proactively with families in the area of cancer prevention and helping them cope more effectively with its impact on their lives. Uses a clinical case example to illustrate intervention with cancer…

  12. Family therapy by family doctors

    PubMed Central

    Neighbour, R.

    1982-01-01

    The experiences of a group of general practitioners learning and attempting family therapy are described. Three principles for working with whole families — facilitation, formulation and focussing — are illustrated by case histories. Family therapy in general practice can be effective for patients and worthwhile for family doctors. PMID:7153974

  13. The Swedish Deep Drilling Program - an emerging scientific drilling program and new infrastructure.

    NASA Astrophysics Data System (ADS)

    Lorenz, Henning; Juhlin, Christopher

    2010-05-01

    Scientific drilling projects imply numerous aspects that are difficult to handle for individual research groups. Therefore, about three years ago a joint effort was launched in the Swedish geoscientific community to establish a national program for scientific drilling, the Swedish Deep Drilling Program (SDDP). Soon afterwards, several working groups established drilling proposals with Nordic and, also, international participation. With this serious interest in scientific drilling SDDP was able to successfully promote the Swedish membership in ICDP which commenced in 2008. Two SDDP projects achieved workshop grants from the International Continental Scientific Drilling Program (ICDP) in 2009. In the same year the Swedish Research Council decided to support an application for a truck-mounted drill rig - a big success for the SDDP working group. Scientific Drilling infrastructure: SDDP envisages a mobile platform that is capable of core drilling to at least 2500 m depth. The procurement will be made during 2010 and first operations are planned for 2011. This drill rig is primarily intended for use in the SDDP drilling projects, but will be rented out to other scientific drilling projects or even commercial enterprises in the remaining time to cover maintenance and future upgrade costs. SDDP's drill rig will be unique in Europe and complementary to the deep drilling InnovaRig of the GFZ German Research Centre for Geosciences. Until now, drilling to 2000 - 3000 m implied the use of a full-sized drill rig like the InnovaRig or the mobilization of a core drill rig from another continent. This gap will now be filled by Sweden's upcoming scientific drilling infrastructure. Drilling projects and proposals: Presently, SDDP serves six projects: "Collisional Orogeny in the Scandinavian Caledonides" (COSC; ICDP workshop spring 2010), the "Postglacial Fault Drilling Project" (PFDP; ICDP workshop autumn 2010), a "Deep Rock Laboratory" (DRL), "Palaeoproterozoic Mineralized Volcanic

  14. Late Embryogenesis Abundant (LEA) Constitutes a Large and Diverse Family of Proteins Involved in Development and Abiotic Stress Responses in Sweet Orange (Citrus sinensis L. Osb.)

    PubMed Central

    Pedrosa, Andresa Muniz; Martins, Cristina de Paula Santos; Gonçalves, Luana Pereira; Costa, Marcio Gilberto Cardoso

    2015-01-01

    Late Embryogenesis Abundant (LEA) proteins are an ubiquitous group of polypeptides that were first described to accumulate during plant seed dehydration, at the later stages of embryogenesis. Since then they have also been recorded in vegetative plant tissues experiencing water limitation and in anhydrobiotic bacteria and invertebrates and, thereby, correlated with the acquisition of desiccation tolerance. This study provides the first comprehensive study about the LEA gene family in sweet orange (Citrus sinensis L. Osb.), the most important and widely grown fruit crop around the world. A surprisingly high number (72) of genes encoding C. sinensis LEAs (CsLEAs) were identified and classified into seven groups (LEA_1, LEA_2, LEA_3 and LEA_4, LEA_5, DEHYDRIN and SMP) based on their predicted amino acid sequences and also on their phylogenetic relationships with the complete set of Arabidopsis thaliana LEA proteins (AtLEAs). Approximately 60% of the CsLEAs identified in this study belongs to the unusual LEA_2 group of more hydrophobic LEA proteins, while the other LEA groups contained a relatively small number of members typically hydrophilic. A correlation between gene structure and motif composition was observed within each LEA group. Investigation of their chromosomal localizations revealed that the CsLEAs were non-randomly distributed across all nine chromosomes and that 33% of all CsLEAs are segmentally or tandemly duplicated genes. Analysis of the upstream sequences required for transcription revealed the presence of various stress-responsive cis-acting regulatory elements in the promoter regions of CsLEAs, including ABRE, DRE/CRT, MYBS and LTRE. Expression analysis using both RNA-seq data and quantitative real-time RT-PCR (qPCR) revealed that the CsLEA genes are widely expressed in various tissues, and that many genes containing the ABRE promoter sequence are induced by drought, salt and PEG. These results provide a useful reference for further exploration of

  15. Late Embryogenesis Abundant (LEA) Constitutes a Large and Diverse Family of Proteins Involved in Development and Abiotic Stress Responses in Sweet Orange (Citrus sinensis L. Osb.).

    PubMed

    Pedrosa, Andresa Muniz; Martins, Cristina de Paula Santos; Gonçalves, Luana Pereira; Costa, Marcio Gilberto Cardoso

    2015-01-01

    Late Embryogenesis Abundant (LEA) proteins are an ubiquitous group of polypeptides that were first described to accumulate during plant seed dehydration, at the later stages of embryogenesis. Since then they have also been recorded in vegetative plant tissues experiencing water limitation and in anhydrobiotic bacteria and invertebrates and, thereby, correlated with the acquisition of desiccation tolerance. This study provides the first comprehensive study about the LEA gene family in sweet orange (Citrus sinensis L. Osb.), the most important and widely grown fruit crop around the world. A surprisingly high number (72) of genes encoding C. sinensis LEAs (CsLEAs) were identified and classified into seven groups (LEA_1, LEA_2, LEA_3 and LEA_4, LEA_5, DEHYDRIN and SMP) based on their predicted amino acid sequences and also on their phylogenetic relationships with the complete set of Arabidopsis thaliana LEA proteins (AtLEAs). Approximately 60% of the CsLEAs identified in this study belongs to the unusual LEA_2 group of more hydrophobic LEA proteins, while the other LEA groups contained a relatively small number of members typically hydrophilic. A correlation between gene structure and motif composition was observed within each LEA group. Investigation of their chromosomal localizations revealed that the CsLEAs were non-randomly distributed across all nine chromosomes and that 33% of all CsLEAs are segmentally or tandemly duplicated genes. Analysis of the upstream sequences required for transcription revealed the presence of various stress-responsive cis-acting regulatory elements in the promoter regions of CsLEAs, including ABRE, DRE/CRT, MYBS and LTRE. Expression analysis using both RNA-seq data and quantitative real-time RT-PCR (qPCR) revealed that the CsLEA genes are widely expressed in various tissues, and that many genes containing the ABRE promoter sequence are induced by drought, salt and PEG. These results provide a useful reference for further exploration of

  16. Stability and Change in Sustainability of Daily Routines and Social Networks in Families of Children with Profound Intellectual and Multiple Disabilities

    ERIC Educational Resources Information Center

    Wilder, Jenny; Granlund, Mats

    2015-01-01

    Background: Children with profound intellectual and multiple disabilities (PIMD) demand intense family accommodations from birth and onwards. This study used an exploratory and qualitative study design to investigate stability and change in sustainability of daily routines and social networks of Swedish families of children with PIMD. Materials…

  17. Risk Gambling and Personality: Results from a Representative Swedish Sample.

    PubMed

    Sundqvist, Kristina; Wennberg, Peter

    2015-12-01

    The association between personality and gambling has been explored previously. However, few studies are based on representative populations. This study aimed at examining the association between risk gambling and personality in a representative Swedish population. A random Swedish sample (N = 19,530) was screened for risk gambling using the Lie/Bet questionnaire. The study sample (N = 257) consisted of those screening positive on Lie/Bet and completing a postal questionnaire about gambling and personality (measured with the NODS-PERC and the HP5i respectively). Risk gambling was positively correlated with Negative Affectivity (a facet of Neuroticism) and Impulsivity (an inversely related facet of Conscientiousness), but all associations were weak. When taking age and gender into account, there were no differences in personality across game preference groups, though preferred game correlated with level of risk gambling. Risk gamblers scored lower than the population norm data with respect to Negative Affectivity, but risk gambling men scored higher on Impulsivity. The association between risk gambling and personality found in previous studies was corroborated in this study using a representative sample. We conclude that risk and problem gamblers should not be treated as a homogeneous group, and prevention and treatment interventions should be adapted according to differences in personality, preferred type of game and the risk potential of the games. PMID:24880745

  18. Antiretroviral treatment of HIV infection: Swedish recommendations 2007.

    PubMed

    Josephson, Filip; Albert, Jan; Flamholc, Leo; Gisslén, Magnus; Karlström, Olof; Lindgren, Susanne-Rosa; Navér, Lars; Sandström, Eric; Svedhem-Johansson, Veronica; Svennerholm, Bo; Sönnerborg, Anders

    2007-01-01

    On 3 previous occasions, in 2002, 2003 and 2005, the Swedish Medical Products Agency (Läkemedelsverket) and the Swedish Reference Group for Antiviral Therapy (RAV) have jointly published recommendations for the treatment of HIV infection. An expert group, under the guidance of RAV, has now revised the text again. Since the publication of the previous treatment recommendations, 1 new drug for the treatment of HIV has been approved - the protease inhibitor (PI) darunavir (Prezista). Furthermore, 3 new drugs have become available: the integrase inhibitor raltegravir (MK-0518), the CCR5-inhibitor maraviroc (Celsentri), both of which have novel mechanisms of action, and the non-nucleoside reverse transcriptase inhibitor (NNRTI) etravirine (TMC-125). The new guidelines differ from the previous ones in several respects. The most important of these are that abacavir is now preferred to tenofovir and zidovudine, as a first line drug in treatment-naïve patients, and that initiation of antiretroviral treatment is now recommended before the CD4 cell count falls below 250/microl, rather than 200/microl. Furthermore, recommendations on the treatment of HIV infection in children have been added to the document. As in the case of the previous publication, recommendations are evidence-graded in accordance with the Oxford Centre for Evidence Based Medicine, 2001 (see http://www.cebm.net/levels_of_evidence.asp#levels). PMID:17577810

  19. Comprehensive mass flow analysis of Swedish sludge contaminants.

    PubMed

    Olofsson, Ulrika; Brorström-Lundén, Eva; Kylin, Henrik; Haglund, Peter

    2013-01-01

    A screening of metals, persistent organic pollutants, pharmaceuticals and personal care products (PPCPs), and other organic contaminants in sludge from seven Swedish sewage treatment plants (STPs) was performed in this study. This extensive screening provides information on mass flows of 282 compounds used in the Swedish society to sewage sludge. It reveals constant relative contaminant concentrations (ng mg kg(-1) d.w.), except for some pesticides and perfluorinated compounds, indicating that these originate from broad usage and diffuse dispersion rather than (industrial) point sources. There was a five order of magnitude difference in the sum concentrations of the most and least abundant species (metals and polychlorinated dibenzo-p-dioxins and -furans, respectively). Lower total concentrations were found in sludge from STPs processing primarily food industry or household sewage. Proportions of the amounts used (in Sweden) found in sludge were lower for compounds that are present in consumer goods or are diffusely dispersed into the environment (0.01-1% recovered in sludge) than for compounds used as detergents or PPCPs (17-63%). In some cases, the recovery seemed to be affected by evaporation (e.g. octamethylcyclotetrasiloxane) or biotransformation (e.g. adipates) losses, while polychlorinated alkanes and brominated diphenyl ethers were recovered to disproportionately high degree (ca. 4%); likely due to incomplete statistics for imported goods. PMID:22921435

  20. Risk of malignant lymphoma in Swedish agricultural and forestry workers.

    PubMed Central

    Wiklund, K; Lindefors, B M; Holm, L E

    1988-01-01

    The risk of malignant lymphoma after possible exposure to phenoxy acid herbicides was studied in 354,620 Swedish men who, according to a national census in 1960, were employed in agriculture or forestry. The cohort was divided into subcohorts according to assumed exposure and compared with 1,725,645 Swedish men having other economic activities. All were followed up in the Cancer-Environment Register between 1961 and 1979. Non-Hodgkin lymphoma was found in 861 men in the study cohort. The relative risk was not significantly increased in any subcohort, did not differ significantly between the subcohorts, and showed no time related increase in the total cohort or any subcohort. Hodgkin's disease was found in 355 men in the study cohort. Relative risks significantly higher than unity were found among fur farming and silviculture workers where the relative risks were 4.45 and 2.26, respectively. All five cases in the former group were engaged in mink farming. A time related rising trend in relative risk was found in the silviculture subcohort. Elsewhere the relative risk did not diverge from unity and no time related trend was discernible. PMID:3342183

  1. Experiences of Injuries and Injury Reporting among Swedish Skydivers

    PubMed Central

    Jong, Mats; Westman, Anton; Saveman, Britt-Inger

    2014-01-01

    The objective was to illuminate the experience of injuries and the process of injury reporting within the Swedish skydiving culture. Data contained narrative interviews that were subsequently analyzed with content analysis. Seventeen respondents (22–44 years) were recruited at three skydiving drop zones in Sweden. In the results injury events related to the full phase of a skydive were described. Risk of injury is individually viewed as an integrated element of the recreational activity counterbalanced by its recreational value. The human factor of inadequate judgment such as miscalculation and distraction dominates the descriptions as causes of injuries. Organization and leadership act as facilitators or constrainers for reporting incidents and injuries. On the basis of this study it is interpreted that safety work and incident reporting in Swedish skydiving may be influenced more by local drop zone culture than the national association regulations. Formal and informal hierarchical structures among skydivers seem to decide how skydiving is practiced, rules are enforced, and injuries are reported. We suggest that initial training and continuing education need to be changed from the current top-down to a bottom-up perspective, where the individual skydiver learns to see the positive implications of safety work and injury reporting. PMID:26464887

  2. Vancomycin resistant enterococci (VRE) in Swedish sewage sludge

    PubMed Central

    Sahlström, Leena; Rehbinder, Verena; Albihn, Ann; Aspan, Anna; Bengtsson, Björn

    2009-01-01

    Background Antimicrobial resistance is a serious threat in veterinary medicine and human healthcare. Resistance genes can spread from animals, through the food-chain, and back to humans. Sewage sludge may act as the link back from humans to animals. The main aims of this study were to investigate the occurrence of vancomycin resistant enterococci (VRE) in treated sewage sludge, in a Swedish waste water treatment plant (WWTP), and to compare VRE isolates from sewage sludge with isolates from humans and chickens. Methods During a four month long study, sewage sludge was collected weekly and cultured for VRE. The VRE isolates from sewage sludge were analysed and compared to each other and to human and chicken VRE isolates by biochemical typing (PhenePlate), PFGE and antibiograms. Results Biochemical typing (PhenePlate-FS) and pulsed field gel electrophoresis (PFGE) revealed prevalence of specific VRE strains in sewage sludge for up to 16 weeks. No connection was found between the VRE strains isolated from sludge, chickens and humans, indicating that human VRE did not originate from Swedish chicken. Conclusion This study demonstrated widespread occurrence of VRE in sewage sludge in the studied WWTP. This implies a risk of antimicrobial resistance being spread to new farms and to the society via the environment if the sewage sludge is used on arable land. PMID:19480649

  3. Psychometric properties of the Swedish version of the Resilience Scale.

    PubMed

    Lundman, Berit; Strandberg, Gunilla; Eisemann, Martin; Gustafson, Yngve; Brulin, Christine

    2007-06-01

    The aim of this study was to investigate resilience in relation to age and gender, and to elucidate the underlying structure of the Swedish version of the Resilience Scale (RS). The RS, originally created by Wagnild and Young is a 25 items scale of Lickert type with possible scores ranges from 25 to 175, the higher the score, the stronger resilience. A standardized procedure was used for translation. The analysis was based on 1719 participants, 1248 women and 471 men, from eight different samples, aged from 19 to 103 years. We found that the participants estimated their resilience as relatively high. There was a significant relationship between age and resilience, for every year RS score increased with 0.134 units. There was no relation between gender and resilience. From a factor analyses five factors emerged, equanimity, meaningfulness, perseverance, existential aloneness and self-reliance reflecting the five dimensions described by Wagnild and Young. We concluded that the resilience is related to age, the older, the stronger resilience. Five underlying dimensions was identified, which can be seen as reflection of the theoretical assumptions behind the RS scale. The RS scale seems applicable to a Swedish population. PMID:17559442

  4. Cancer incidence and mortality among Swedish leather tanners.

    PubMed Central

    Mikoczy, Z; Schütz, A; Hagmar, L

    1994-01-01

    OBJECTIVES--The aim was to study the incidence of cancer among Swedish leather tanners. METHODS--A cohort of 2026 subjects who had been employed for at least one year between 1900 and 1989 in three Swedish leather tanneries, was established. The cancer incidence and mortality patterns were assessed for the periods 1958-89 and 1952-89 respectively, and cause-specific standardised incidence and mortality ratios (SIRs and SMRs) were calculated. RESULTS--A significantly increased incidence of soft tissue sarcomas (SIR 4.27, 95% confidence interval (95% CI) 1.39-9.97) was found, based on five cases. Excesses, (not statistically significant) was also found for multiple myelomas (SIR 2.54, 95% CI 0.93-5.53), and sinonasal cancer (SIR 3.77, 95% CI 0.46-13.6). CONCLUSIONS--The increased incidence of soft tissue sarcomas adds support to previous findings of an excess mortality in this diagnosis among leather tanners. A plausible cause is exposure to chlorophenols, which had occurred in all three plants. The excess of multiple myelomas may also be associated with exposure to chlorophenol. The association between incidence of cancer and specific chemical exposure will be elucidated in a cohort-based case-referent study. PMID:7951777

  5. Data resource profile: The Swedish Panel Study of Living Conditions of the Oldest Old (SWEOLD).

    PubMed

    Lennartsson, Carin; Agahi, Neda; Hols-Salén, Linda; Kelfve, Susanne; Kåreholt, Ingemar; Lundberg, Olle; Parker, Marti G; Thorslund, Mats

    2014-06-01

    As the number and proportion of very old people in the population increase, there is a need for improved knowledge about their health and living conditions. The SWEOLD interview surveys are based on random samples of the population aged 77+years. The low non-response rates, the inclusion of institutionalized persons and the use of proxy informants for people unable to be interviewed directly ensure a representative portrayal of this age group in Sweden. SWEOLD began in 1992 and has been repeated in 2002, 2004 and 2011. The survey is based on another national survey, the Swedish Level of Living Survey (LNU), started in 1968 with 10-year follow-up waves. This longitudinal design provides additional data collected when SWEOLD participants were in middle age and early old age. The SWEOLD interviews cover a wide range of areas including health and health behaviour, work history, family, leisure activities and use of health and social care services. Socio-economic factors include education, previous occupation and available cash margin. Health indicators include symptoms, diseases, mobility and activities of daily living (ADL). In addition to self-reported data, the interview includes objective tests of lung function, physical function, grip strength and cognition. The data have been linked to register data, for example for income and mortality follow-ups. Data are available to the scientific community on request. More information about the study, data access rules and how to apply for data are available at the website (www.sweold.se). PMID:24651397

  6. Providing Palliative Care in a Swedish Support Home for People Who Are Homeless.

    PubMed

    Håkanson, Cecilia; Sandberg, Jonas; Ekstedt, Mirjam; Kenne Sarenmalm, Elisabeth; Christiansen, Mats; Öhlén, Joakim

    2016-07-01

    Despite high frequencies of multiple, life-limiting conditions relating to palliative care needs, people who are homeless are one of the most underserved and rarely encountered groups in palliative care settings. Instead, they often die in care places where palliative competence is not available. In this qualitative single-case study, we explored the conditions and practices of palliative care from the perspective of staff at a Swedish support home for homeless people. Interpretive description guided the research process, and data were generated from repeated reflective conversations with staff in groups, individually, and in pairs. The findings disclose a person-centered approach to palliative care, grounded in the understanding of the person's health/illness and health literacy, and how this is related to and determinant on life as a homeless individual. Four patterns shape this approach: building trustful and family-like relationships, re-dignifying the person, re-considering communication about illness and dying, and re-defining flexible and pragmatic care solutions. PMID:25994318

  7. Sweden's population grows, Swedish population doesn't.

    PubMed

    Gendell, M

    1984-03-01

    The example of Swedish demography offers a contemporary insight into population growth or decline. In addition to the numerical increase due to the arrival of immigrants, migration can have an indirect effect on a country's population growth due to the arrived immigrants' subsequent natural fertility. Some very interesting differences also can often be observed in the births and deaths between the native born and immigrant populations. This phenomenon is particularly striking in the case of Sweden. In 1970 Sweden's population was growing at nearly 1% per year (9.83/1000), a relatively rapid pace by today's standard. Since 1970, the growth rate dropped steadily, down to only 0.1% in 1981. The main reason for the slowed population growth has been the decline in the birthrate, from 14/1000 population to the 11.3-11.7 range since 1976. At the same time, the death rate rose from 10 to 11. Gains in life expectancy have been outweighed by the increasing proportion of the elderly. During the 1970s the rate of net migration fluctuated considerably. It dropped from a high rate of 6/1000 in 1970 to -1.5 in 1972. 1972 and 1973 are the only postwar years in which Sweden experienced a net outflow. The rate rose again to 2.89 in 1977, falling to 0.3 in 1981, the latest year for which data are available. Starting in 1975 the components of Sweden's population change began to exhibit a remarkable aspect: population growth due to migration exceeded that due to natural increase. This had not occurred previously. Close examination reveals that the gain due to natural increase had become dependent upon the natural increase of the immigrants. Births of Swedish citizens, which had exceeded deaths by 22,000 in 1971, fell until natural decrease appeared in 1976. That gap has been growing wider ever since, to -6100 in 1982. A growing number of immigrants have been attaining Swedish citizenship, but the category of "citizen" is still the virtual equivalent of "native born." At the end of 1981

  8. Maternal and birth anthropometric characteristics in relation to the risk of childhood lymphomas: a Swedish nationwide cohort study.

    PubMed

    Petridou, Eleni Th; Sergentanis, Theodoros N; Skalkidou, Alkistis; Antonopoulos, Constantine N; Dessypris, Nick; Svensson, Tobias; Stephansson, Olof; Kieler, Helle; Smedby, Karin E

    2015-11-01

    This Swedish nationwide cohort study aims to examine the role of maternal characteristics (maternal age, education, smoking, BMI, diabetes, and preeclampsia) and multiple intrauterine growth measures on the risk of childhood lymphomas. A total of 3 444 136 singleton live births registered in the Swedish Medical Birth Register were analyzed, among whom there were 515 incident non-Hodgkin lymphoma (NHL) cases and 169 Hodgkin lymphoma (HL) cases aged 0-14 years at diagnosis (1973-2007) identified through linkage with the Swedish Cancer Register. Proportional hazards models were used to estimate the hazard ratio (HR) and 95% confidence intervals (95% CI) of NHL and HL. Male sex (HR=2.00, 95% CI: 1.66-2.41), older maternal age (HR=1.03, 95% CI: 1.00-1.06, per 1-year increase), and large for gestational age compared with appropriate for gestational age (AGA) birth weight (HR=1.83, 95% CI: 1.20-2.79) were correlated with the risk of NHL; of note, in subanalysis by sex, the latter association was confined to girls (HR=3.37, 95% CI: 1.90-5.97, Pinteraction by sex=0.008). The risk of childhood HL overall was more evident among boys (HR=2.03, 95% CI: 1.46-2.81), whereas indices of accelerated fetal growth were not convincingly associated with the risk of HL. Apart from the established association with sex, the findings point to accelerated intrauterine growth as a risk factor for childhood NHL that may differ by sex. Given the rarity of this condition at birth, however, further studies with more elaborate indices are needed to conclude on its association with rare diseases such as HL. PMID:25569452

  9. FAMILIAL SUICIDE

    PubMed Central

    Unni, K.E. Sadanaandan

    1996-01-01

    Seven completed suicides in a family of lower socioeconomic status and suburban domicile in Pondicherry are reported. The presence of bipolar affective disorder in the family members and the absence of exogenous factors are illustrated by utilising both family history method and family study method. The details collected formed the basis for the terminology ‘familial suicide’. The management of the index case, one of the only three surviving male members of the family, who presented with suicidal ruminations and depressive features, is described. PMID:21584122

  10. Gaspra and Ida in families

    NASA Technical Reports Server (NTRS)

    Williams, James G.

    1992-01-01

    The Galileo flyby candidates 951 Gaspra and 243 Ida are both in families. The former is in a complex of families associated with 8 Flora and the latter is in the Koronis family. The Flora and the Koronis families are described. The Galileo spacecraft will have the opportunity to sample fragments from two types of impacts; one impact totally destroyed the parent body and the other left a large body behind. The types of Ss are also different, the colors of Gaspra and the other Ss in the complex of families near 8 Flora are much redder in U-V than Ida and the Ss of the Koronis family.

  11. Early predictors of injury mortality among Swedish conscripts: a 35-year cohort study.

    PubMed

    Stenbacka, Marlene; Leifman, Anders; Dalal, Koustuv; Jansson, Bjarne

    2011-01-01

    Injuries represent an important cause of mortality among young adults. We studied the associations between adolescents' family, psychological, behavioural and drug-related risk factors in relation to unintentional injury death. A population-based cohort of 49,411 Swedish conscripts aged 18-20 years was followed for 35 years. The end-point of study was injury death up to 2004. The relationship between two family, four psychological and eight behavioural risk factors and injury death were analysed with Cox proportional hazards analyses and χ(2) tests. Among 485 unintentional injury deaths, 40% occurred in subjects aged 25 years or under. The incidence per 1000 person years was 0.29 (95% CI, 0.26-0.31) and the mean age of death was 33 years. Problem drinking at both adolescent and adulthood was more strongly associated with injury death (HR=5.40) than illicit drug use (HR=2.70) even after adjusted for behavioural risk factors: (HR=3.43) and (HR=1.75), respectively. Adolescent risk factors such as contact with police and juvenile authorities, low emotional control, conduct problems at school and low social maturity were significant predictors of injury death in multivariate analyses. Young adults with social, behavioural and psychological problems and especially alcohol and drug use at both adolescent and adulthood have a high mortality rate due to road traffic injuries and all kind of injuries. Early identification of vulnerable groups of adolescents with psychological and behavioural problems including alcohol and drug use at local levels could make a difference. PMID:21094318

  12. Family Support.

    ERIC Educational Resources Information Center

    Wieck, Colleen, Ed.; McBride, Marijo, Ed.

    1990-01-01

    This "Feature Issue" of the quarterly journal "Impact" presents 19 brief articles on family support systems in the United States for persons with developmental disabilities and their families. Emphasis is on provisions of Public Law 99-457. Articles include: "Family Support in the United States: Setting a Course for the 1990s" (James Knoll);…

  13. Family Matters.

    ERIC Educational Resources Information Center

    Mainor, Peggy

    2001-01-01

    Describes a Kellogg Family Collaborative project that involves the University of Montana and four tribal colleges in a family-strengths approach to improving student retention and achievement. States that the project is grounded in social work theory and research that recognize and reinforce family and student resilience through promotion of…

  14. Rural Families.

    ERIC Educational Resources Information Center

    Goetz, Kathy, Ed.

    1992-01-01

    This "special focus" journal issue consists of 13 individual articles on the theme of rural family programs relating to school, health services, church, and other institutions. It includes: (1) "Towards a Rural Family Policy" (Judith K. Chynoweth and Michael D. Campbell); (2) "Montana: Council for Families Collaborates for Prevention (Jean…

  15. Mental health in Swedish children living in joint physical custody and their parents' life satisfaction: a cross-sectional study.

    PubMed

    Bergström, Malin; Fransson, Emma; Hjern, Anders; Köhler, Lennart; Wallby, Thomas

    2014-10-01

    This study compared the psychological symptoms of 129 children in joint physical custody with children in single care and nuclear families, using a nationally representative 2011 survey of 1,297 Swedish children aged between four and 18 years. The outcome measure was the Strengths and Difficulties Questionnaire (SDQ) and its association with three dimensions of parental life satisfaction was investigated. Linear regression analyses showed higher SDQ-scores for children in joint physical custody (B = 1.4, p < 0.001) and single care (B = 2.2, p < 0.001) than in nuclear families, after adjustment for socio-demographic variables. The estimates decreased to 1.1 and 1.3, respectively, after being adjusted for parental life satisfaction ( p < 0.01). Our findings confirm previous research that showed lower symptom scores for children in nuclear families than children in single care and joint physical custody. Parental life satisfaction should be investigated further as a possible explanation of differences in symptom load between children in different living arrangements. PMID:25040954

  16. Mental health in Swedish children living in joint physical custody and their parents' life satisfaction: A cross-sectional study

    PubMed Central

    Bergström, Malin; Fransson, Emma; Hjern, Anders; Köhler, Lennart; Wallby, Thomas

    2014-01-01

    This study compared the psychological symptoms of 129 children in joint physical custody with children in single care and nuclear families, using a nationally representative 2011 survey of 1,297 Swedish children aged between four and 18 years. The outcome measure was the Strengths and Difficulties Questionnaire (SDQ) and its association with three dimensions of parental life satisfaction was investigated. Linear regression analyses showed higher SDQ-scores for children in joint physical custody (B = 1.4, p < 0.001) and single care (B = 2.2, p < 0.001) than in nuclear families, after adjustment for socio-demographic variables. The estimates decreased to 1.1 and 1.3, respectively, after being adjusted for parental life satisfaction ( p < 0.01). Our findings confirm previous research that showed lower symptom scores for children in nuclear families than children in single care and joint physical custody. Parental life satisfaction should be investigated further as a possible explanation of differences in symptom load between children in different living arrangements. PMID:25040954

  17. Eyewitness testimony: tracing the beliefs of Swedish legal professionals.

    PubMed

    Granhag, Pär Anders; Strömwall, Leif A; Hartwig, Maria

    2005-01-01

    This paper examines beliefs held by Swedish legal professionals about eyewitness testimony. In a survey including questions about 13 key issues of eyewitness testimony, three groups were investigated: police officers (n = 104), prosecutors (n = 158), and judges (n = 251). The response rate was 74%. Examples of findings are that the beliefs were in line with scientific findings concerning the weapon focus effect, but were not in line for simultaneous vs. sequential lineups. Between-group differences were found for seven items. Judges were much more sceptical than police officers about the reliability and completeness of children's testimonies. The groups seldom agreed about one answer alternative, and they reported not being up to date about scientific research on eyewitness testimony. The results suggest that some important research findings have reached those working on the field. However, they hold many wrongful beliefs about eyewitness testimony, beliefs that might compromise the accuracy of legal decisions. PMID:16170786

  18. Voice onset time in Swedish children with phonological impairment.

    PubMed

    Lundeborg, Inger; Nordin, Elin; Zeipel-Stjerna, Marie; McAllister, Anita

    2015-12-01

    Mastering spatial and temporal co-ordination in speech production is a challenge for children. Voice onset time (VOT) reflects timing in speech. The objective was to study VOT in Swedish children with a diagnosed phonological impairment and compare results with normative data. Thus 38 children, aged 4-11 years, in three age-groups were audio-recorded when producing minimal pairs with the plosives /p b t d k g/. Waveforms and spectrograms were analysed. Results show that children with phonological impairment produced plosives with deviant VOT values and greater variability compared to normative data. No developmental trend was seen with increasing age. Also, no relationship was found between VOT values and degree of impairment measured by percentage phonemes correct. Furthermore no relation was found between number of errors on auditory discrimination of nine minimal pairs with the different plosives and number of deviant VOT. Findings were interpreted as displaying motor co-ordination difficulties. PMID:24992946

  19. Mining the Swedish clinical archives to develop pharmacogenomic tests.

    PubMed

    Sanders, R

    1999-12-01

    Eurona Medical is a Swedish company that develops diagnostic tests to predict response to drugs or treatment. Sweden offers unparalleled retrospective clinical data resources, with epidemiological registers and collections of tissue samples built up over decades. Efficient pharmacogenomic research can be performed using these registers and sample collections in collaboration with experienced medical researchers. Eurona's tests are based on Genetic Signatures, groups of polymorphic, polygenic genomic positions linked to and therefore predictive of drug response. These are elucidated from complex data sets using unique applications of multivariate and combinatorial statistics and a multigenic approach. The company develops tests applicable to current medical practice and is preparing to launch its first within the hypertension field. Quality control (including ISO9001 certification) and clinical regulatory compliance are applied throughout all programs to produce data that can be directly translated into clinical tests. PMID:10671642

  20. Modeling past and future acidification of Swedish lakes.

    PubMed

    Moldan, Filip; Cosby, Bernard J; Wright, Richard F

    2013-09-01

    Decades of acid deposition have caused acidification of lakes in Sweden. Here we use data for 3000 lakes to run the acidification model MAGIC and estimate historical and future acidification. The results indicate that beginning in about 1920 a progressively larger number of lakes in Sweden fell into the category of "not naturally acidified" (∆pH > 0.4). The peak in acidification was reached about 1985; since then many lakes have recovered in response to lower levels of acid deposition. Further recovery from acidification will occur by the year 2030 given implementation of agreed legislation for emissions of sulphur (S) and nitrogen (N) in Europe. But the number of catchments with soils being depleted in base cations will increase slightly. MAGIC-reconstructed history of acidification of lakes in Sweden agrees well with information on fish populations. Future acidification of Swedish lakes can be influenced by climate change as well as changes in forest harvest practices. PMID:23288615

  1. The lived experience of genital warts: the Swedish example.

    PubMed

    Hammarlund, Kina; Nystrom, Maria

    2004-05-01

    Our aim in this study was to analyze and describe young Swedish women's experiences of living with genital warts. Interviews with 10 young women, aged 16-21 years, were interpreted within a lifeworld hermeneutic tradition. The women experience themselves as victims of a disgusting disease. Furthermore, they appear to disregard the fact that their own lifestyles could be a risk factor for contracting venereal infections. On the other hand they get to know their bodies better after the gynecological examinations where the treatment begins. Their loss of innocence is considerable; thus it seems fair to compare this experience with earlier epochs' ideas about loss of virginity due to the first intercourse. Consequently the young women also start looking at themselves as adults, and they take responsibility for the consequences of their sexuality. PMID:15204815

  2. On the Relationship Between Domain-Specific Creative Achievement and Sexual Orientation in Swedish Twins.

    PubMed

    Mosing, Miriam A; Verweij, Karin J H; Abé, Christoph; de Manzano, Örjan; Ullén, Fredrik

    2016-10-01

    Despite the commonly held belief that homosexual males and females are more creative compared to heterosexuals, empirical studies on homosexuality and its relationship to creativity have been sparse, often with questionable methodology and very small sample sizes, reporting mixed findings. No study till date has explored the associations described above in a large population-based and genetically informative sample. Here, we examined such potential associations between sexual orientation and creative achievement in several different domains (music, writing, dance, visual arts, science, invention, and theater) using a large cohort of 4494 Swedish twins (of which 7.5 % were not exclusively heterosexual). Data were analyzed for the sexes separately as well as pooled. Results showed significant associations between sexual orientation and two of the creative domains-theater and writing-with non-heterosexuals being more creative in these domains. In all other domains, no significant differences were found between the non-heterosexual and heterosexual groups. Findings from co-twin control analyses suggested that the significant associations may not be causal in nature (i.e., homosexual orientation leads to higher creativity) but due to shared liability. However, we lacked power to differentiate between shared genetic and shared environmental influences. Results and potential implications are discussed critically. PMID:26969321

  3. Widespread waterborne pollution in central Swedish lakes and the Baltic Sea from pre-industrial mining and metallurgy.

    PubMed

    Bindler, Richard; Renberg, Ingemar; Rydberg, Johan; Andrén, Thomas

    2009-07-01

    Metal pollution is viewed as a modern problem that began in the 19th century and accelerated through the 20th century; however, in many parts of the globe this view is wrong. Here, we studied past waterborne metal pollution in lake sediments from the Bergslagen region in central Sweden, one of many historically important mining regions in Europe. With a focus on lead (including isotopes), we trace mining impacts from a local scale, through a 120-km-long river system draining into Mälaren--Sweden's third largest lake, and finally also the Baltic Sea. Comparison of sediment and peat records shows that pollution from Swedish mining was largely waterborne and that atmospheric deposition was dominated by long-range transport from other regions. Swedish ore lead is detectable from the 10th century, but the greatest impact occurred during the 16th-18th centuries with improvements occurring over recent centuries, i.e., historical pollution > modern industrial pollution. PMID:19268409

  4. Taking Advantage of the "Big Mo"—Momentum in Everyday English and Swedish and in Physics Teaching

    NASA Astrophysics Data System (ADS)

    Haglund, Jesper; Jeppsson, Fredrik; Ahrenberg, Lars

    2015-06-01

    Science education research suggests that our everyday intuitions of motion and interaction of physical objects fit well with how physicists use the term "momentum". Corpus linguistics provides an easily accessible approach to study language in different domains, including everyday language. Analysis of language samples from English text corpora reveals a trend of increasing metaphorical use of "momentum" in non-science domains, and through conceptual metaphor analysis, we show that the use of the word in everyday language, as opposed to for instance "force", is largely adequate from a physics point of view. In addition, "momentum" has recently been borrowed into Swedish as a metaphor in domains such as sports, politics and finance, with meanings similar to those in physics. As an implication for educational practice, we find support for the suggestion to introduce the term "momentum" to English-speaking pupils at an earlier age than what is typically done in the educational system today, thereby capitalising on their intuitions and experiences of everyday language. For Swedish-speaking pupils, and possibly also relevant to other languages, the parallel between "momentum" and the corresponding physics term in the students' mother tongue could be made explicit..

  5. Knut Lundmark, meteors and an early Swedish crowdsourcing experiment.

    PubMed

    Kärnfelt, Johan

    2014-10-01

    Mid twentieth century meteor astronomy demanded the long-term compilation of observations made by numerous individuals over an extensive geographical area. Such a massive undertaking obviously required the participation of more than just professional astronomers, who often sought to expand their ranks through the use of amateurs that had a basic grasp of astronomy as well as the night sky, and were thus capable of generating first-rate astronomical reports. When, in the 1920s, renowned Swedish astronomer Knut Lundmark turned his attention to meteor astronomy, he was unable to rely even upon this solution. In contrast to many other countries at the time, Sweden lacked an organized amateur astronomy and thus contained only a handful of competent amateurs. Given this situation, Lundmark had to develop ways of engaging the general public in assisting his efforts. To his advantage, he was already a well-established public figure who had published numerous popular science articles and held talks from time to time on the radio. During the 1930s, this prominence greatly facilitated his launching of a crowdsourcing initiative for the gathering of meteor observations. This paper consists of a detailed discussion concerning the means by which Lundmark's initiative disseminated astronomical knowledge to the general public and encouraged a response that might directly contribute to the advancement of science. More precisely, the article explores the manner in which he approached the Swedish public, the degree to which that public responded and the extent to which his efforts were successful. The primary aim of this exercise is to show that the apparently recent Internet phenomenon of 'crowdsourcing', especially as it relates to scientific research, actually has a pre-Internet history that is worth studying. Apart from the fact that this history is interesting in its own right, knowing it can provide us with a fresh vantage point from which to better comprehend and appreciate

  6. Knut Lundmark, meteors and an early Swedish crowdsourcing experiment.

    PubMed

    Kärnfelt, Johan

    2014-10-01

    Mid twentieth century meteor astronomy demanded the long-term compilation of observations made by numerous individuals over an extensive geographical area. Such a massive undertaking obviously required the participation of more than just professional astronomers, who often sought to expand their ranks through the use of amateurs that had a basic grasp of astronomy as well as the night sky, and were thus capable of generating first-rate astronomical reports. When, in the 1920s, renowned Swedish astronomer Knut Lundmark turned his attention to meteor astronomy, he was unable to rely even upon this solution. In contrast to many other countries at the time, Sweden lacked an organized amateur astronomy and thus contained only a handful of competent amateurs. Given this situation, Lundmark had to develop ways of engaging the general public in assisting his efforts. To his advantage, he was already a well-established public figure who had published numerous popular science articles and held talks from time to time on the radio. During the 1930s, this prominence greatly facilitated his launching of a crowdsourcing initiative for the gathering of meteor observations. This paper consists of a detailed discussion concerning the means by which Lundmark's initiative disseminated astronomical knowledge to the general public and encouraged a response that might directly contribute to the advancement of science. More precisely, the article explores the manner in which he approached the Swedish public, the degree to which that public responded and the extent to which his efforts were successful. The primary aim of this exercise is to show that the apparently recent Internet phenomenon of 'crowdsourcing', especially as it relates to scientific research, actually has a pre-Internet history that is worth studying. Apart from the fact that this history is interesting in its own right, knowing it can provide us with a fresh vantage point from which to better comprehend and appreciate

  7. Risk factors for displaced abomasum or ketosis in Swedish dairy herds.

    PubMed

    Stengärde, L; Hultgren, J; Tråvén, M; Holtenius, K; Emanuelson, U

    2012-03-01

    Risk factors associated with high or low long-term incidence of displaced abomasum (DA) or clinical ketosis were studied in 60 Swedish dairy herds, using multivariable logistic regression modelling. Forty high-incidence herds were included as cases and 20 low-incidence herds as controls. Incidence rates were calculated based on veterinary records of clinical diagnoses. During the 3-year period preceding the herd classification, herds with a high incidence had a disease incidence of DA or clinical ketosis above the 3rd quartile in a national database for disease recordings. Control herds had no cows with DA or clinical ketosis. All herds were visited during the housing period and herdsmen were interviewed about management routines, housing, feeding, milk yield, and herd health. Target groups were heifers in late gestation, dry cows, and cows in early lactation. Univariable logistic regression was used to screen for factors associated with being a high-incidence herd. A multivariable logistic regression model was built using stepwise regression. A higher maximum daily milk yield in multiparous cows and a large herd size (p=0.054 and p=0.066, respectively) tended to be associated with being a high-incidence herd. Not cleaning the heifer feeding platform daily increased the odds of having a high-incidence herd twelvefold (p<0.01). Keeping cows in only one group in the dry period increased the odds of having a high incidence herd eightfold (p=0.03). Herd size was confounded with housing system. Housing system was therefore added to the final logistic regression model. In conclusion, a large herd size, a high maximum daily milk yield, keeping dry cows in one group, and not cleaning the feeding platform daily appear to be important risk factors for a high incidence of DA or clinical ketosis in Swedish dairy herds. These results confirm the importance of housing, management and feeding in the prevention of metabolic disorders in dairy cows around parturition and in early

  8. [The Swedish ambulance services 1935-1936 of Gunnar Agge].

    PubMed

    Gustavsson, Pär; Nilsson, Peter M

    2006-01-01

    The fact that Sweden has been spared from war on its soil for almost 200 years, has not stopped Swedish citizens from participating in conflicts worldwide during this period. This has been described, especially from the soldiers perspective. The contribution of Swedish physicians has not been written about to the same extent. When Mussolini's Italy in October 1935 invaded the poor and underdeveloped country of Ethiopia (former Abyssinia) an ambulance was immediately organized by the Swedish Red Cross. To lead such an expedition, a great knowledge of Ethiopian culture och maybe most importantly, of the weather and geographical conditions, was undoubtedly demanded. Therefore, the Swedish Red Cross turned to two Ethiopian veterans. Doctor Fride Hylander, a missionary-son who had been working on a hospital project in the Ethiopian province of Harrar and his friend since school years, doctor Gunnar Agge, were assigned the leadership of the ambulance. Dr Agge had also participated in improving the Ethiopian health care both in Harrar and later as civilian and military doctor in the province of Ogaden, where he was medically responsible for the more than 9 000 men strong army that the Ethiopian emperor had stationed there after Italian provocations. Most of the other members of the ambulance were handpicked by these two leaders and many of them had, just like themselves, a stong religious belief. A money-raise was immediately initiated and in less than six weeks 700 000 Swedish crowns had been collected, more then twice the sum the ambulance was calculated to cost. In early november 1935 the ambulance was clear to go. Their primary objective was to travel through British Somaliland and establish a field-hospital in the province of Harrar. However, the Ethiopian emperor had other things in mind. He wanted to reorganize the ambulance and divide it in two and place it closer to the front line. The ambulance decided to go along with his wish. Both groups started eventually

  9. Progress in a genome scan for linkage in schizophrenia in a large Swedish kindred

    SciTech Connect

    Barr, C.L.; Kennedy, J.L.; Pakstis, A.J.

    1994-03-15

    Genetic linkage studies of a kindred from Sweden segregating for schizophrenia have been performed using a genetic model (autosomal dominant, f - 0.72, q - 0.02, phenocopies=0.001) as described in Kennedy et al., 1988. Analyses of the restriction fragment length polymorphism (RFLP), allele-specific oligonucleotides (ASO), and short tandem repeat (STR also called microsatellite) data for 180 polymorphisms (individual probe-enzyme, ASO, or STR systems) at 155 loci have been completed using the MLINK and LIPED programs. Linkage to schizophrenia was excluded, under the given model, at 47 loci; indeterminate lod scores occurred at 108 loci. The total exclusion region across 20 chromosomes is estimated at 330 cM; 211 cM excluded by pairwise analyses and 119 cM previously excluded by multipoint analyses. 37 refs., 2 tabs.

  10. What makes a family reliable?

    NASA Technical Reports Server (NTRS)

    Williams, James G.

    1992-01-01

    Asteroid families are clusters of asteroids in proper element space which are thought to be fragments from former collisions. Studies of families promise to improve understanding of large collision events and a large event can open up the interior of a former parent body to view. While a variety of searches for families have found the same heavily populated families, and some searches have found the same families of lower population, there is much apparent disagreement between proposed families of lower population of different investigations. Indicators of reliability, factors compromising reliability, an illustration of the influence of different data samples, and a discussion of how several investigations perceived families in the same region of proper element space are given.

  11. Promoting mental health in Swedish preschool-teacher views.

    PubMed

    Isaksson, Pernilla; Marklund, Bertil; Haraldsson, Katarina

    2013-12-01

    The promotion of childhood mental health is an important investment for the future. Many young children spend a large amount of time in preschool, which have unique opportunities to promote mental health at an early stage. The aim of this study was to illuminate teachers' views of what they do in ordinary work to promote mental health among preschool children. This qualitative study had a descriptive and exploratory design and qualitative content analysis was utilized. Six focus group interviews with preschool teachers, concerning families from different cultural, geographical and socioeconomic backgrounds, were conducted in a county in the southwest of Sweden. Both manifest and latent content appeared. Three categories, 'structured world', 'pleasant climate' and 'affirming the child' and 10 subcategories emerged. The latent content of these categories is described under the theme 'creating an atmosphere where each child can flourish in harmony with their environment'. The results show teachers different working approaches with mental health in preschool and together with previous research these results can provide a basis of knowledge for preschool teachers and inspire them to develop and maintain their health-promoting work. In future studies it should be particularly interesting to investigate how the promotive way to work can be transferred to strengthen mental health throughout the school years. PMID:24305690

  12. Ethnic family structure.

    PubMed

    Mcdonald, P

    1989-04-01

    Using information from large-scale statistical collections and elaborations from ethnographic studies, this paper examines the underlying social processes and structures of migrant families in Australia. Migrants in Australia are often confronted by family values and behavior which run counter to their own. For some migrants, particularly those from the United Kingdom and Western European countries, there is little conflict as Australian family values and behavior approximate their own; the feminine conception of the family is not foreign to them. On the other hand, migrants from Mediterranean countries and from Asia are likely to face a clash between the masculine conception of the family and the dominant feminine conception they find in Australia. Economic structure also often forces an accommodation to the feminine conception of the family. For example, migrant women in Australia are heavily involved in the work force outside the family circle, and, in the main, have relatively low fertility. Age at marriage is increasing and many single women of migrant origin are being educated at the tertiary level and are working before marriage. These changes necessarily expose women and youths to the dominant social values and increase their economic independence, thus disrupting the conventional male family authority. There is evidence of a degree of accommodation to Australian patterns of behavior in migrant groups more inclined to a masculine conception of the family. In other areas, however, which are less directly related to economic pressure, migrant values have been far less accommodating. There is still a high level of endogamy, the 1st birth occurs soon after marriage, divorce rates are low, and the aged are very likely to live with their children. Large migrant groups have been able to maintain these patterns of behavior through the formation of ethnic substructures that form their principal social environment. In the longer term, however, their children are

  13. Investigating the factorial structure and availability of work time control in a representative sample of the Swedish working population

    PubMed Central

    Albrecht, Sophie C.; Kecklund, Göran; Tucker, Philip; Leineweber, Constanze

    2015-01-01

    Aims: Past research has often neglected the sub-dimensions of work time control (WTC). Moreover, differences in levels of WTC with respect to work and demographic characteristics have not yet been examined in a representative sample. We investigated these matters in a recent sample of the Swedish working population. Methods: The study was based on the 2014 data collection of the Swedish Longitudinal Occupational Survey of Health. We assessed the structure of the WTC measure using exploratory and confirmatory factor analysis. Differences in WTC by work and demographic characteristics were examined with independent sample t-tests, one-way ANOVAs and gender-stratified logistic regressions. Results: Best model fit was found for a two-factor structure that distinguished between control over daily hours and control over time off (root mean square error of approximation = 0.06; 95% CI 0.04 to 0.09; Comparative Fit Index (CFI) = 0.99). Women, shift and public-sector workers reported lower control in relation to both factors. Age showed small associations with WTC, while a stronger link was suggested for civil status and family situation. Night, roster and rotating shift work seemed to be the most influential factors on reporting low control over daily hours and time off. Conclusions: Our data confirm the two-dimensional structure underlying WTC, namely the components ‘control over daily hours’ and ‘control over time off’. Women, public-sector and shift workers reported lower levels of control. Future research should examine the public health implications of WTC, in particular whether increased control over daily hours and time off can reduce health problems associated with difficult working-time arrangements. PMID:26620363

  14. Phenotype-Genotype Correlation in Wilson Disease in a Large Lebanese Family: Association of c.2299insC with Hepatic and of p. Ala1003Thr with Neurologic Phenotype

    PubMed Central

    Usta, Julnar; Wehbeh, Antonios; Rida, Khaled; El-Rifai, Omar; Estiphan, Theresa Alicia; Majarian, Tamar; Barada, Kassem

    2014-01-01

    Genotype phenotype correlations in Wilson disease (WD) are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC) or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state. We investigated 76 members of a single large Lebanese family. Their genotypes were determined, and clinical assessments were carried out for affected subjects. We also performed a literature search retrieving the phenotypes of patients carrying the same mutations of our patients in the homozygous or compound heterozygous state. There were 7 consanguineous marriages in this family and the prevalence of WD was 8.9% and of carriers of ATP7B mutation 44.7%. WD was confirmed in 9 out of 76 subjects. All 9 had the c.2299insC mutation, 5 homozygous and 4-compound heterozygous with p. Ala1003Thr. Six of our patients had hepatic, 2 had neurologic and 1 had asymptomatic phenotype. Based on our data and a literature review, clear phenotypes were reported for 38 patients worldwide carrying the c.2299insC mutation. About 53% of those have hepatic and 29% have neurologic phenotype. Furthermore, there were 10 compound heterozygous patients carrying the p. Ala1003Thr mutation. Among those, 80% having c.2299insC as the second mutation had hepatic phenotype, and all others had neurologic phenotype. We hereby report an association between the c.2299insC mutation and hepatic phenotype and between the p. Ala1003Thr mutation and neurologic phenotype. PMID:25390358

  15. Sugar-sweetened beverage consumption and genetic predisposition to obesity in 2 Swedish cohorts12

    PubMed Central

    Brunkwall, Louise; Chen, Yan; Hindy, George; Rukh, Gull; Ericson, Ulrika; Barroso, Inês; Johansson, Ingegerd; Franks, Paul W; Orho-Melander, Marju; Renström, Frida

    2016-01-01

    Background: The consumption of sugar-sweetened beverages (SSBs), which has increased substantially during the last decades, has been associated with obesity and weight gain. Objective: Common genetic susceptibility to obesity has been shown to modify the association between SSB intake and obesity risk in 3 prospective cohorts from the United States. We aimed to replicate these findings in 2 large Swedish cohorts. Design: Data were available for 21,824 healthy participants from the Malmö Diet and Cancer study and 4902 healthy participants from the Gene-Lifestyle Interactions and Complex Traits Involved in Elevated Disease Risk Study. Self-reported SSB intake was categorized into 4 levels (seldom, low, medium, and high). Unweighted and weighted genetic risk scores (GRSs) were constructed based on 30 body mass index [(BMI) in kg/m2]-associated loci, and effect modification was assessed in linear regression equations by modeling the product and marginal effects of the GRS and SSB intake adjusted for age-, sex-, and cohort-specific covariates, with BMI as the outcome. In a secondary analysis, models were additionally adjusted for putative confounders (total energy intake, alcohol consumption, smoking status, and physical activity). Results: In an inverse variance-weighted fixed-effects meta-analysis, each SSB intake category increment was associated with a 0.18 higher BMI (SE = 0.02; P = 1.7 × 10−20; n = 26,726). In the fully adjusted model, a nominal significant interaction between SSB intake category and the unweighted GRS was observed (P-interaction = 0.03). Comparing the participants within the top and bottom quartiles of the GRS to each increment in SSB intake was associated with 0.24 (SE = 0.04; P = 2.9 × 10−8; n = 6766) and 0.15 (SE = 0.04; P = 1.3 × 10−4; n = 6835) higher BMIs, respectively. Conclusions: The interaction observed in the Swedish cohorts is similar in magnitude to the previous analysis in US cohorts and indicates that the relation of SSB

  16. Dental care utilization in a Swedish county in 1993 and 2003.

    PubMed

    Sondell, Katarina; Söderfeldt, Björn; Hugoson, Anders

    2010-01-01

    The aim of the present study is to analyse factors influencing the patterns of utilization of dental care in an adult urban Swedish population aged between 30 and 80 in the years 1993 and 2003. This study is part of two large epidemiological dental studies of randomly selected individuals, performed in 1993 and 2003. It comprises clinical and questionnaire data from 555 and 505 individuals in the two studyyears. In 1993, more patients visited the private dental care system more often than the public system. This difference still existed in 2003, but to a 50% lower extent. All age groups had less utilization of dental care in 2003 than in 1993. The largest change was seen in the 30-year age group in utilization patterns of dental care between the two study years. A hierarchical block regression method was performed in four steps, analysing utilization for the two study years separately. The dental service system influenced the utilization patterns significantly for both years. The health factors strengthened this main result. Irrespective of dental health, patients were predicted to visit the private dental care service system more often in both 1993 and 2003. The socio-economic differences between people in Sweden were of no consequence for dental care utilization. As to age and attitude towards treatment costs, a substantial change was observed and might reflect a change in social patterns with greater inequalities, but the overall picture of equal access in dental care in Sweden remains. PMID:21306087

  17. Fatty acid composition of Swedish bakery products, with emphasis on trans-fatty acids.

    PubMed

    Trattner, Sofia; Becker, Wulf; Wretling, Sören; Öhrvik, Veronica; Mattisson, Irene

    2015-05-15

    Trans-fatty acids (TFA) have been associated with increased risk of coronary heart disease, by affecting blood lipids and inflammation factors. Current nutrition recommendations emphasise a limitation of dietary TFA intake. The aim of this study was to investigate fatty acid composition in sweet bakery products, with emphasis on TFA, on the Swedish market and compare fatty acid composition over time. Products were sampled in 2001, 2006 and 2007 and analysed for fatty acid composition by using GC. Mean TFA levels were 0.7% in 2007 and 5.9% in 2001 of total fatty acids. In 1995-97, mean TFA level was 14.3%. In 2007, 3 of 41 products had TFA levels above 2% of total fatty acids. TFA content had decreased in this product category, while the proportion of saturated (SFA) and polyunsaturated (PUFA) fatty acids had increased, mostly through increased levels of 16:0 and 18:2 n-6, respectively. The total fat content remained largely unchanged. PMID:25577101

  18. Quantification of neurotoxin BMAA (β-N-methylamino-L-alanine) in seafood from Swedish markets

    NASA Astrophysics Data System (ADS)

    Jiang, Liying; Kiselova, Nadezda; Rosén, Johan; Ilag, Leopold L.

    2014-11-01

    The neurotoxin β-N-methylamino-L-alanine (BMAA) produced naturally by cyanobacteria, diatoms and dinoflagellates can be transferred and accumulated up the food chain, and may be a risk factor for neurodegenerative diseases. This study provides the first systematic screening of BMAA exposure of a large population through the consumption of seafood sold in metropolitan markets. BMAA was distinguished from known isomers by liquid chromatography tandem mass spectrometry after acidic hydrolysis and derivatization. Using deuterium-labeled internal standard, BMAA was quantified as 0.01-0.90 μg/g wet weight of tissues in blue mussel, oyster, shrimp, plaice, char and herring, but was undetectable (<0.01 μg/g) in other samples (salmon, cod, perch and crayfish). Provided that the content of BMAA detected is relevant for intake calculations, the data presented may be used for a first estimation of BMAA exposure through seafood from Swedish markets, and to refine the design of future toxicological experiments and assessments.

  19. Quantification of neurotoxin BMAA (β-N-methylamino-L-alanine) in seafood from Swedish markets.

    PubMed

    Jiang, Liying; Kiselova, Nadezda; Rosén, Johan; Ilag, Leopold L

    2014-01-01

    The neurotoxin β-N-methylamino-L-alanine (BMAA) produced naturally by cyanobacteria, diatoms and dinoflagellates can be transferred and accumulated up the food chain, and may be a risk factor for neurodegenerative diseases. This study provides the first systematic screening of BMAA exposure of a large population through the consumption of seafood sold in metropolitan markets. BMAA was distinguished from known isomers by liquid chromatography tandem mass spectrometry after acidic hydrolysis and derivatization. Using deuterium-labeled internal standard, BMAA was quantified as 0.01-0.90 μg/g wet weight of tissues in blue mussel, oyster, shrimp, plaice, char and herring, but was undetectable (<0.01 μg/g) in other samples (salmon, cod, perch and crayfish). Provided that the content of BMAA detected is relevant for intake calculations, the data presented may be used for a first estimation of BMAA exposure through seafood from Swedish markets, and to refine the design of future toxicological experiments and assessments. PMID:25373604

  20. Job decision latitude, job demands, and cardiovascular disease: a prospective study of Swedish men.

    PubMed Central

    Karasek, R; Baker, D; Marxer, F; Ahlbom, A; Theorell, T

    1981-01-01

    The association between specific job characteristics and subsequent cardiovascular disease was tested using a large random sample of the male working Swedish population. The prospective development of coronary heart disease (CHD) symptoms and signs was analyzed using a multivariate logistic regression technique. Additionally, a case-controlled study was used to analyze all cardiovascular-cerebrovascular (CHD-CVD) deaths during a six-year follow-up. The indicator of CHD symptoms and signs was validated in a six-year prospective study of CHD deaths (standardized mortality ratio 5.0; p less than or equal to .001). A hectic and psychologically demanding job increases the risk of developing CHD symptoms and signs (standardized odds ratio 1.29, p less than 0.25) and premature CHD-CVD death (relative risk 4.0, p less than .01). Low decision latitude-expressed as low intellectual discretion and low personal schedule freedom-is also associated with increased risk of cardiovascular disease. Low intellectual discretion predicts the development of CHD symptoms and signs (SOR 1.44, p less than .01), while low personal schedule freedom among the majority of workers with the minimum statutory education increases the risk of CHD-CVD death (RR 6.6, p less than .0002). The associations exist after controlling for age, education, smoking, and overweight. PMID:7246835

  1. The Swedish Vacuum Solar Telescope data-acquisition and control systems

    NASA Astrophysics Data System (ADS)

    Shand, Mark; Scharmer, Göran B.

    1998-11-01

    The performance of commodity computer systems doubles approximately every 18 months. Traditionally, the design of scientific data-acquisition and control systems has tended to ignore this fact, relying instead on custom hardware developments using the technology available at the time of instrument specification. Moreover, development manpower is usually limited, causing relatively long development cycles. Often the the result is that an instrument is technologically obsolete quite early in its projected lifetime. In contrast, all the digital processing for data acquisition and control at the Swedish Vacuum Solar Telescope (SVST) on La Palma (Canary Islands) is performed with commodity workstations. The result is a flexible system with low development costs that can easily take advantage of the latest microprocessor advances. The SVST's use of commodity workstations in on-line real-time tasks is in large part made possible by its use of reconfigurable interface technology. Indeed the SVST has been a valuable proving ground for this technology. This article summarizes the instrumentation of the SVST and illustrates examples of data recorded with this instrumentation.

  2. Viewing child pornography: prevalence and correlates in a representative community sample of young Swedish men.

    PubMed

    Seto, Michael C; Hermann, Chantal A; Kjellgren, Cecilia; Priebe, Gisela; Svedin, Carl Göran; Långström, Niklas

    2015-01-01

    Most research on child pornography use has been based on selected clinical or criminal justice samples; risk factors for child pornography use in the general population remain largely unexplored. In this study, we examined prevalence, risk factors, and correlates of viewing depictions of adult-child sex in a population-representative sample of 1,978 young Swedish men (17-20 years, Mdn = 18 years, overall response rate, 77 %). In an anonymous, school-based survey, participants self-reported sexual coercion experiences, attitudes and beliefs about sex, perceived peer attitudes, and sexual interests and behaviors; including pornography use, sexual interest in children, and sexually coercive behavior. A total of 84 (4.2 %) young men reported they had ever viewed child pornography. Most theory-based variables were moderately and significantly associated with child pornography viewing and were consistent with models of sexual offending implicating both antisociality and sexual deviance. In multivariate logistic regression analysis, 7 of 15 tested factors independently predicted child pornography viewing and explained 42 % of the variance: ever had sex with a male, likely to have sex with a child aged 12-14, likely to have sex with a child 12 or less, perception of children as seductive, having friends who have watched child pornography, frequent pornography use, and ever viewed violent pornography. From these, a 6-item Child Pornography Correlates Scale was constructed and then cross-validated in a similar but independent Norwegian sample. PMID:24515803

  3. STAC -- a new Swedish code for statistical analysis of cracks in SG-tubes

    SciTech Connect

    Poern, K.

    1997-02-01

    Steam generator (SG) tubes in pressurized water reactor plants are exposed to various types of degradation processes, among which stress corrosion cracking in particular has been observed. To be able to evaluate the safety importance of such cracking of SG-tubes one has to have a good and empirically founded knowledge about the scope and the size of the cracks as well as the rate of their continuous growth. The basis of experience is to a large extent constituted of the annually performed SG-inspections and crack sizing procedures. On the basis of this experience one can estimate the distribution of existing crack lengths, and modify this distribution with regard to maintenance (plugging) and the predicted rate of crack propagation. Finally, one can calculate the rupture probability of SG-tubes as a function of a given critical crack length. On account of the Swedish Nuclear Power Inspectorate an introductory study has been performed in order to get a survey of what has been done elsewhere in this field. The study resulted in a proposal of a computerizable model to be able to estimate the distribution of true cracks, to modify this distribution due to the crack growth and to compute the probability of tube rupture. The model has now been implemented in a compute code, called STAC (STatistical Analysis of Cracks). This paper is aimed to give a brief outline of the model to facilitate the understanding of the possibilities and limitations associated with the model.

  4. Patterns of Comorbidity of Eating Disorders and Substance Use in Swedish Females

    PubMed Central

    Root, Tammy L.; Pisetsky, Emily M.; Thornton, Laura; Lichtenstein, Paul; Pedersen, Nancy L.; Bulik, Cynthia M

    2009-01-01

    Background Little is known about the association of eating disorder (ED) subtypes across multiple categories of substance use (SU) in population-based samples. We examined the association between EDs and SU in a large population-based sample. Method Female participants (N=13,297) were from the Swedish Twin Registry (Lichtenstein et al., 2006). SU was examined in four defined groups − (1) anorexia nervosa (AN); (2) bulimia nervosa (BN); (3) anorexia nervosa and bulimia nervosa (ANBN); and (4) binge eating disorder (BED) as well as a referent group without EDs (no ED). Secondary analyses examined differences between restricting AN (RAN) and binge and/or purge AN (ANBP). Results In general, EDs were associated with greater SU relative to the referent. The AN group had significantly increased odds for all illicit drugs. Significant differences emerged across the RAN and ANBP groups for alcohol abuse/dependence, diet pills, stimulants, and polysubstance use with greater use in the ANBP group. Across ED groups, (1) the BN and ANBN groups were more likely to report alcohol abuse/dependence relative to the AN group, (2) the ANBN group was more likely to report diet pill use relative to the AN, BN, and BED groups, and (3) the BN group was more likely to report diet pill use relative to the no ED, AN and BED groups. Conclusions EDs are associated with a range of SU behaviors. Improved understanding of how they mutually influence risk could enhance understanding of etiology and prevention. PMID:19379530

  5. Increased vitamin plasma levels in Swedish military personnel treated with nutrients prior to automatic weapon training

    PubMed Central

    Le Prell, C. G.; Johnson, A.-C.; Lindblad, A.-C.; Skjönsberg, Å.; Ulfendahl, M.; Guire, K.; Green, G. E.; Campbell, K. C. M.; Miller, J. M.

    2013-01-01

    Noise-induced hearing loss (NIHL) is a significant clinical, social, and economic issue. The development of novel therapeutic agents to reduce NIHL will potentially benefit multiple very large noise-exposed populations. Oxidative stress has been identified as a significant contributor to noise-induced sensory cell death and noise-induced hearing loss, and several antioxidant strategies have now been suggested for potential translation to human subjects. One such strategy is a combination of beta-carotene, vitamins C and E, and magnesium, which has shown promise for protection against NIHL in rodent models, and is being evaluated in a series of international human clinical trials using temporary (military gunfire, audio player use) and permanent (stamping factory, military airbase) threshold shift models (NCT00808470). The noise exposures used in the recently completed Swedish military gunfire study described in this report did not, on average, result in measurable changes in auditory function using conventional pure-tone thresholds and distortion product otoacoustic emission (DPOAE) amplitudes as metrics. However, analysis of the plasma samples confirmed significant elevations in the bloodstream 2 hours after oral consumption of active clinical supplies, indicating the dose is realistic. The plasma outcomes are encouraging, but clinical acceptance of any novel therapeutic critically depends on demonstration that the agent reduces noise-induced threshold shift in randomized, placebo-controlled, prospective human clinical trials. Although this noise insult did not induce hearing loss, the trial design and study protocol can be applied to other populations exposed to different noise insults. PMID:22122960

  6. FAMILY LYGISTORRHINIDAE.

    PubMed

    Oliveira, Sarah Siqueira; Amorim, Dalton De Souza

    2016-01-01

    The Lygistorrhinidae are a family belonging to the suborder Bibionomorpha, with no previous record from Colombia. This paper refers for the first time to the occurrence of the family in the country, an undetermined species of the genus Lygistorrhina (Probolaeus) Williston. PMID:27395260

  7. Family Potyviridae

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The International Committee on the Taxonomy of Viruses potyvirus study group has revised the description of the family Potyviridae for inclusion in the ICTV 9th report. Characteristic features of each genus within the family is presented. Revised criteria for demarcation and nomenclature of viral sp...

  8. Family Life.

    ERIC Educational Resources Information Center

    Naturescope, 1986

    1986-01-01

    Focuses on various aspects of mammal family life ranging from ways different species are born to how different mammals are raised. Learning activities include making butter from cream, creating birth announcements for mammals, and playing a password game on family life. (ML)

  9. Family Empowerment.

    ERIC Educational Resources Information Center

    Sinclair, Mary F., Ed.; And Others

    1992-01-01

    This feature issue of IMPACT focuses on the empowerment of families with a member who has a developmental disability. It presents strategies and models for a collaborative, respectful approach to service provision, and presents the experiences of families in seeking support and assistance. Feature articles include "Two Generations of Disability: A…

  10. Family Workshops

    ERIC Educational Resources Information Center

    Bennett, Dave; Rees-Jones, Tanny

    1978-01-01

    A Family Workshop is an informal, multidisciplined educational program for adults and children, organized by a team of teachers. This article discusses the Lavender Hill Family Workshop, one of many, which attempts to provide education in various subject areas for adults and for children while also integrating both objectives in order to educate…

  11. The Swedish Bohus granite - a stone with a fascinating history

    NASA Astrophysics Data System (ADS)

    Schouenborg, Björn; Eliasson, Thomas

    2015-04-01

    One of the most well-known and well spread Swedish stone types used as building stones is the Bonus granite. It outcrops in an area north of Gothenburgh (SW Sweden), along the coastline, approximately 35 km wide and 85 km long. The granite continues into Norway as the Iddefjord granite. The Bohus granite is one of Sweden's youngest granites. Isotopic dating shows that the magma cooled at about 920 M years ago and thus marking the end of the Sveconorwegian orogoney. It is a composite granite massif area with several granitic intrusions but with rather homogeneous mineralogy. However, colour and texture varies quite a lot and the colour ranges from red to reddish grey although some pure grey varieties occur sparsely. The grain size ranges from medium grained to coarse grained and even with some porphyric parts. Quarrying in an industrial scale started 1842. The merchant A C Kullgren opened the first quarry and produced stones for the construction of the 86 km long Trollhättan channel connecting lake Vänern and the Atlantic ocean in the SW Sweden The stone was used for constructing harbors and wharves along the channel. Several quarries opened in the late 1800 around 1870 - 1890 and the export increased steadily with deliveries to Germany, Denmark, Holland, England and even to South America. The stone industries in Bohuslän (Bohus county), at its peak in 1929, engaged around 7 000 employees. During the depression in 1930 almost all of them became unemployed. However, as a curiosity, production and export continued to Germany for construction of Germania, the future World capital city ("Welthauptstadt Germania"), planned by Adolf Hitler and Albert Speer. About 500 stone workers were kept employed for this project during the late thirties. Today several varieties are still produced: Evja/Ävja, Tossene, Brastad, Näsinge, Broberg, Nolby, Allemarken and Skarstad. However, the number of stone workers is far from that of the early 1900. The Swedish production is mainly

  12. A preliminary estimation of the expected noise levels from the Swedish wind energy conversion system (WECS) prototypes Maglarp and Naesudden

    SciTech Connect

    Soedeqvist, S.

    1982-04-01

    Noise levels for horizontal axis turbines whose diameter 75 m and electric power output 2 to 3 MW were predicted. Noise criteria in view of Swedish regulations and the effects of wind dependent background noise are considered. Highest sound pressure levels are recorded downwind, due to source directionality. Wind also introduces downward refraction and extra damping due to prolonged propagation path. Unexpectedly large low frequency noise values can exist where blade passage frequency and natural vortex separation frequency are similar. Problems with unpleasant low frequency noise could be overcome by setting sound level maxima of 40 dBA or 55 dBC in urban areas, 35 dBA or 55 dBC in recreation areas, and by lowering these limits by 5 dB for impulse and tonal noise. Rise in background noise level caused by increased wind speed should be accounted for when setting limits.

  13. Long-term effects on nitrogen and benthic fauna of extreme weather events: Examples from two Swedish headwater streams.

    PubMed

    Löfgren, Stefan; Grandin, Ulf; Stendera, Sonja

    2014-01-01

    Climate change is expected to cause an increased frequency of extreme events such as heavy floods and major storms. Such stochastic events have an immediate impact on surface water quality, but the long-term effects are largely unknown. In this study, we assess long-term monitoring data from two Swedish headwater catchments affected by extreme weather events. At one site, where nitrogen effects in soil water, groundwater, and stream water were studied after storm-felling and subsequent forest dieback from bark beetle attack, long-term (> 5 years) but relatively modest (generally <1 mg L⁻¹) increases in ammonium (NH(4)-N) and nitrate (NO(3)-N) concentrations were observed in the various aqueous media. At the other site, where effects on benthic fauna were studied in a stream impacted by extreme geophysical disturbances caused by rainstorm-induced flashflood, only short-term (1 year) effects were revealed both regarding diversity and composition of species. PMID:25403970

  14. The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children

    PubMed Central

    2012-01-01

    Background Recent genome-wide association studies have identified a single nucleotide polymorphism within the last intron of MAP2K5 associated with a higher body mass index (BMI) in adults. MAP2K5 is a component of the MAPK-family intracellular signaling pathways, responding to extracellular growth factors such as brain derived neurotrophic factor (BDNF) and nerve growth factor (NGF). In this study, we examined the association of this variant in two cohorts of children from Sweden and Greece. Methods We examine the association of rs2241423 to BMI in a cohort of 474 Swedish children admitted for treatment of childhood obesity and 519 children matched for gender, ethnicity and socioeconomic background from the Stockholm area, as well as a cross-sectional cohort of 2308 Greek school children (Healthy Growth Study). Children were genotyped using a predesigned TaqMan polymorphism assay. Logistic regression was used to test for an association of rs2241423 to obesity in the cohort of Swedish children. Linear regression was used to test for an association of rs2241423 to BMI z-score and phenotypic measurements of body adiposity in the cohort of Greek children. Models were adjusted for age and gender. In the cohort of Greek children the model was also adjusted for stage of pubertal development. Results The minor allele of rs2241423, allele A, was associated with a protective effect against obesity in the cohort of Swedish children (p = 0.029, OR = 0.79 (95% CI: 0.64–0.98)), and with a lower BMI z-score in the cohort of Greek children (p = 0.028, β = −0.092). No association to phenotypic measurements of body fat distribution could be observed in our study. Conclusions rs2241423 was associated with BMI and obesity in two independent European cohorts suggesting a role for MAP2K5 in early weight regulation. PMID:22594783

  15. Family Health and Family Planning.

    ERIC Educational Resources Information Center

    World Health Organization, Copenhagen (Denmark). Regional Office for Europe.

    This document is made up of a selection of some of the papers distributed to participants in courses on "Family Health and Family Planning" which have been organized each year since 1973 by the International Children's Center and the World Health Organization Regional Office for Europe. Six courses, held between 1973 and 1978, brought together a…

  16. Workplace health interventions in small enterprises: a Swedish longitudinal study.

    PubMed

    Vinberg, Stig

    2008-01-01

    This article has a two-fold approach. First, it investigates relationships between work organizational factors, and health and performance outcomes. Second, it compares two change strategy approaches in workplace health interventions by studying changes of these factors and outcomes. The sample consisted of ten Swedish small enterprises including 102 individuals, who answered a before and after questionnaire about organizational factors and outcomes. The leaders were interviewed and answered a questionnaire about performed workplace health interventions. Statistical methods used were reliability tests, correlation analyses and t-tests. Results indicate rather strong links between indicators of respectful leadership, creative work and team spirit, and the outcome indicators self-assessed health and judged workplace adaptability in association with customer satisfaction. The results concerning changes of determinants and outcomes (after workplace health interventions) showed significant differences between enterprises using a broad change strategy and those using an expert/problem-based strategy with the former having more favourable results. The leader interview results also point at obstacles concerning workplace change processes as lack of resources, insufficient competence and influence of external factors. The study results suggest that work organizational factors and integrated models for workplace health intervention are of importance for health and performance outcomes in small enterprises. PMID:18725710

  17. Biodiversity on Swedish pastures: estimating biodiversity production costs.

    PubMed

    Nilsson, Fredrik Olof Laurentius

    2009-01-01

    This paper estimates the costs of producing biological diversity on Swedish permanent grasslands. A simple model is introduced where biodiversity on pastures is produced using grazing animals. On the pastures, the grazing animals create a sufficient grazing pressure to lead to an environment that suits many rare and red-listed species. Two types of pastures are investigated: semi-natural and cultivated. Biological diversity produced on a pasture is estimated by combining a biodiversity indicator, which measures the quality of the land, with the size of the pasture. Biodiversity is, in this context, a quantitative measure where a given quantity can be produced either by small area with high quality or a larger area with lower quality. Two areas in different parts of Sweden are investigated. Box-Cox transformations, which provide flexible functional forms, are used in the empirical analysis and the results indicate that the biodiversity production costs differ between the regions. The major contribution of this paper is that it develops and tests a method of estimating biodiversity production costs on permanent pastures when biodiversity quality differs between pastures. If the method were to be used with cost data, that were more thoroughly collected and covered additional production areas, biodiversity cost functions could be estimated and used in applied policy work. PMID:18079049

  18. Swedish traveller with Plasmodium knowlesi malaria after visiting Malaysian Borneo.

    PubMed

    Bronner, Ulf; Divis, Paul C S; Färnert, Anna; Singh, Balbir

    2009-01-01

    Plasmodium knowlesi is typically found in nature in macaques and has recently been recognized as the fifth species of Plasmodium causing malaria in human populations in south-east Asia. A case of knowlesi malaria is described in a Swedish man, who became ill after returning from a short visit to Malaysian Borneo in October 2006. His P. knowlesi infection was not detected using a rapid diagnostic test for malaria, but was confirmed by PCR and molecular characterization. He responded rapidly to treatment with mefloquine. Evaluation of rapid diagnostic kits with further samples from knowlesi malaria patients are necessary, since early identification and appropriate anti-malarial treatment of suspected cases are essential due to the rapid growth and potentially life-threatening nature of P. knowlesi. Physicians should be aware that knowlesi infection is an important differential diagnosis in febrile travellers, with a recent travel history to forested areas in south-east Asia, including short-term travellers who tested negative with rapid diagnostic tests. PMID:19146706

  19. The Swedish Council on Technology Assessment in Health Care.

    PubMed

    Bloom, B S; Banta, H D; Gross, P F; Peña-Mohr, J; Sisk, J E; Stocking, B

    1989-01-01

    During its first year of operation (1988) the Swedish Council on Technology Assessment in Health Care focused on nine areas. Additional activities will be added as need requires and resources permit. Also, preparations for 1989 projects have begun. The nine areas include: identification of technologies needing assessment, including international comparisons; review and synthesis of the value of preoperative routines; review and synthesis of the value of gastroscopy for diagnosing stomach pain; assessment of different treatment methods for back pain; assessment of the value of vascular surgery for vascular spasms in the legs; organization of a strategy conference concerning medical technology assessment in Sweden; creation of a strategy that addresses an international review of medical technology, future technologies in health care, waiting lists for medical care--the importance of medical technology, resource utilization and organizational and educational aspects of introducing new technology in health care, and costs and medical technology; translation of foreign assessment studies, with comments; national and international cooperation. SCTA has discussed the need for assessing specific technology such as bone marrow transplantation and surgical treatment of epilepsy. SCTA's Scientific Advisory Committee has additionally considered the following subjects for future projects: medical, social, and economic consequences of alternative technologies screening for prostate, colorectal, breast, and cervical cancer; costs, indications, and medical benefit of surgery for varicose vains; and modern urology technologies, particularly those related to prostate care. PMID:10292538

  20. Complete ascertainment of Parkinson disease in the Swedish Twin Registry

    PubMed Central

    Wirdefeldt, Karin; Gatz, Margaret; Bakaysa, Stephanie L.; Fiske, Amy; Flensburg, Måns; Petzinger, Giselle M.; Widner, Håkan; Lew, Mark F.; Welsh, Mickie; Pedersen, Nancy L.

    2008-01-01

    This report describes the ascertainment of Parkinson disease (PD) in all individuals aged 50 years or older (49,814 individuals) from the Swedish Twin Registry. In phase one of the study, all twins were screened for PD using telephone interviews, with a response rate of 72.7%. In phase two, twins with suspected PD were re-contacted to exclude anyone from follow-up who reported parkinsonian symptoms due to diseases other than PD. In the third phase, in-person clinical evaluations were completed for twins who were still considered PD suspects after phase two and for a sample of co-twins. During the clinical evaluations, we also collected blood samples and information about a variety of environmental exposures. Overall prevalence rate for PD was 496 per 100,000 individuals. Among the 132 PD cases identified, there were only three concordant twin pairs. In total 7.2% of PD cases reported a first degree relative with PD. PMID:17532098